ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3168+9G>A

gnomAD frequency: 0.00010  dbSNP: rs369201773
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466665 SCV000559397 benign Rhabdoid tumor predisposition syndrome 2 2025-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256306 SCV002532880 likely benign Hereditary cancer-predisposing syndrome 2021-04-04 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478025 SCV004220422 benign not provided 2023-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004745412 SCV005344931 likely benign SMARCA4-related disorder 2019-05-30 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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