ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1119-6T>C

gnomAD frequency: 0.00006  dbSNP: rs368180712
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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 RCV000232986 SCV000285976 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000500902 SCV000597184 likely benign not specified 2016-03-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258840 SCV002532366 benign Hereditary cancer-predisposing syndrome 2021-02-13 criteria provided, single submitter curation

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