ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1179C>T (p.Ala393=)

gnomAD frequency: 0.00001  dbSNP: rs373168068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460465 SCV000559425 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571626 SCV000664103 likely benign Hereditary cancer-predisposing syndrome 2016-10-12 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.
PreventionGenetics, part of Exact Sciences RCV003915304 SCV004735201 likely benign SMARCA4-related disorder 2023-10-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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