ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2682G>A (p.Thr894=)

dbSNP: rs1300802922
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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 RCV000535414 SCV000648023 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561176 SCV000672096 likely benign Hereditary cancer-predisposing syndrome 2016-01-08 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 RCV000561176 SCV002532856 likely benign Hereditary cancer-predisposing syndrome 2021-08-10 criteria provided, single submitter curation

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