ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1762-17TC[3]

dbSNP: rs748956133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002095833 SCV002397391 likely benign Rhabdoid tumor predisposition syndrome 2 2024-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747043 SCV005357100 likely benign SMARCA4-related disorder 2024-07-18 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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