ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1594-8T>C

gnomAD frequency: 0.00001  dbSNP: rs753174460
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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 RCV000226418 SCV000285994 likely benign Rhabdoid tumor predisposition syndrome 2 2025-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257542 SCV002534568 benign Hereditary cancer-predisposing syndrome 2021-01-26 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477800 SCV004220392 likely benign not provided 2022-10-03 criteria provided, single submitter clinical testing

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