ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2712C>G (p.Pro904=)

dbSNP: rs1600278367
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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 RCV000904038 SCV001048534 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004746144 SCV005355941 likely benign SMARCA4-related disorder 2024-08-07 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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