ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.2348+8A>C

gnomAD frequency: 0.00020  dbSNP: rs771019219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839085 SCV002098986 uncertain significance Nicolaides-Baraitser syndrome 2021-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545217 SCV002947575 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing

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