ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys)

dbSNP: rs1343138502
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856761 SCV000999313 pathogenic Nicolaides-Baraitser syndrome criteria provided, single submitter clinical testing
Baylor Genetics RCV001533100 SCV001748920 uncertain significance SMARCA2-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing

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