ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2373G>T (p.Ala791=)

dbSNP: rs995214932
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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 RCV002257263 SCV002532835 likely benign Hereditary cancer-predisposing syndrome 2021-10-19 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003617953 SCV004427280 likely benign Rhabdoid tumor predisposition syndrome 2 2023-06-27 criteria provided, single submitter clinical testing

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