ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1776A>G (p.Ala592=)

dbSNP: rs2145980647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258583 SCV002532793 likely benign Hereditary cancer-predisposing syndrome 2021-12-21 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003107974 SCV003783167 likely benign Rhabdoid tumor predisposition syndrome 2 2022-10-16 criteria provided, single submitter clinical testing

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