ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.372G>A (p.Leu124=)

gnomAD frequency: 0.00004  dbSNP: rs780881662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539586 SCV000648072 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564930 SCV000672194 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 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 RCV001809518 SCV002057895 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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