ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4185C>T (p.Gly1395=)

gnomAD frequency: 0.00001  dbSNP: rs889180299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473957 SCV000548470 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567121 SCV000672077 likely benign Hereditary cancer-predisposing syndrome 2017-04-27 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 RCV001809391 SCV002056221 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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