ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4665G>C (p.Ser1555=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002330651 SCV002633658 likely benign Hereditary cancer-predisposing syndrome 2020-08-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003507416 SCV004369881 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-12 criteria provided, single submitter clinical testing

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