ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.144G>T (p.Gly48=)

dbSNP: rs1398193826
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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 RCV000568112 SCV000664211 likely benign Hereditary cancer-predisposing syndrome 2017-01-25 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.
Invitae RCV000820688 SCV000961411 likely benign Rhabdoid tumor predisposition syndrome 2 2023-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809588 SCV002057829 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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