ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.1983C>A (p.Leu661=)

gnomAD frequency: 0.00053  dbSNP: rs140384223
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001680792 SCV001899957 benign not provided 2020-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001680792 SCV002405434 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001680792 SCV004161776 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SMARCA2: BP4, BP7

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