ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2382G>T (p.Thr794=)

dbSNP: rs373048420
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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 RCV000465897 SCV000559297 likely benign Rhabdoid tumor predisposition syndrome 2 2024-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565867 SCV000663870 likely benign Hereditary cancer-predisposing syndrome 2016-04-11 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 RCV000565867 SCV002532836 likely benign Hereditary cancer-predisposing syndrome 2020-09-25 criteria provided, single submitter curation

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