ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3775-12A>G

gnomAD frequency: 0.00001  dbSNP: rs770956288
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000328582 SCV000410498 uncertain significance Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057477 SCV002455675 likely benign Rhabdoid tumor predisposition syndrome 2 2022-12-08 criteria provided, single submitter clinical testing

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