ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1386C>T (p.Ile462=)

dbSNP: rs1265247876
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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 RCV000531184 SCV000647948 likely benign Rhabdoid tumor predisposition syndrome 2 2023-10-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003419973 SCV004139551 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SMARCA4: BP4, BP7
Ambry Genetics RCV004024134 SCV005038000 likely benign Hereditary cancer-predisposing syndrome 2017-06-23 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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