ClinVar Miner

Submissions for variant NM_001330288.2(SMARCC2):c.1926+1G>T

dbSNP: rs1555221275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000625996 SCV000746602 uncertain significance SMARCC2-related disorder 2017-05-10 criteria provided, single submitter clinical testing This individual has been reported in PMID: 30580808 (individual 8).
Baylor Genetics RCV001533035 SCV001748854 likely pathogenic SMARCC2-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
GeneReviews RCV001580201 SCV001809835 not provided Coffin-Siris syndrome 8 no assertion provided literature only Recurrent de novo splicing variant; affected persons have developmental delays, minimal or absent speech, and hypotonia.

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