ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3807C>T (p.Ala1269=)

dbSNP: rs2146665764
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002212719 SCV002361607 likely benign Rhabdoid tumor predisposition syndrome 2 2021-06-06 criteria provided, single submitter clinical testing

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