ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1728C>T (p.Val576=)

gnomAD frequency: 0.00008  dbSNP: rs1060504461
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465042 SCV000559400 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564707 SCV000664110 likely benign Hereditary cancer-predisposing syndrome 2015-09-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4 RCV000564707 SCV002532790 likely benign Hereditary cancer-predisposing syndrome 2021-11-08 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478026 SCV004220393 likely benign not provided 2022-11-03 criteria provided, single submitter clinical testing

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