ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4825C>T (p.Leu1609=)

dbSNP: rs878854232
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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 RCV000228442 SCV000286115 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002648 SCV001160633 likely benign not specified 2019-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347874 SCV002646403 likely benign Hereditary cancer-predisposing syndrome 2017-11-06 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.

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