ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2106C>T (p.Asp702=)

gnomAD frequency: 0.00001  dbSNP: rs758781256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877425 SCV001020160 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014452 SCV001175160 likely benign Hereditary cancer-predisposing syndrome 2018-03-08 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.
PreventionGenetics, part of Exact Sciences RCV003895386 SCV004712803 likely benign SMARCA4-related disorder 2021-11-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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