ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2850C>A (p.Thr950=)

dbSNP: rs141259126
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799101 SCV000938750 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016762 SCV001177756 likely benign Hereditary cancer-predisposing syndrome 2018-07-26 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.
Genome-Nilou Lab RCV001809816 SCV002056188 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478497 SCV004220416 likely benign not provided 2023-04-26 criteria provided, single submitter clinical testing

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