ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3312A>G (p.Gln1104=)

dbSNP: rs1600336124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019905 SCV001181319 likely benign Hereditary cancer-predisposing syndrome 2017-12-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001218988 SCV001390902 likely benign Rhabdoid tumor predisposition syndrome 2 2023-10-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809927 SCV002056195 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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