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Pathogenic heterozygous variants in <jats:italic>SMARCC2<\/jats:italic> have been implicated in Coffin\u2013Siris syndrome 8 (MIM 618362) with variable neurodevelopmental presentations. We report here two relatively severely affected patients with two different <jats:italic>SMARCC2<\/jats:italic> variants: one has <jats:italic>de novo<\/jats:italic> pathogenic variant, c.1824_1826del, p.(Leu609del), in a suspected hotspot region through reanalysis of previously negative clinical exome data, and the other has a likely pathogenic loss\u2010of\u2010function variant, c.1094_1097delAGAA, p.(Lys365Thrfs*12) through exome analysis in an adopted subject. Regardless of variant type, both patients have severe developmental delays, severe speech delay, short stature, hypotonia, seizures, and craniofacial dysmorphisms, blurring previously speculated genotype\u2013phenotype correlation on missense and loss\u2010of\u2010function variants. This report extends our understanding of the genotypic and phenotypic spectrums of the <jats:italic>SMARCC2<\/jats:italic>\u2010related neurodevelopmental disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.62597","type":"journal-article","created":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T07:22:00Z","timestamp":1639034520000},"page":"878-882","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Further supporting <scp><i>SMARCC2<\/i><\/scp>\u2010related neurodevelopmental disorder through exome analysis and reanalysis in two patients"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2265-6727","authenticated-orcid":false,"given":"Dong","family":"Li","sequence":"first","affiliation":[{"name":"Center for Applied Genomics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania 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Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9194-0644","authenticated-orcid":false,"given":"Samantha A.","family":"Schrier Vergano","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters  Norfolk Virginia USA"},{"name":"Department of Pediatrics Eastern Virginia Medical School  Norfolk Virginia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5748-3507","authenticated-orcid":false,"given":"Elizabeth J.","family":"Bhoj","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics The Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics The Children's Hospital of 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