ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2616+14G>T

dbSNP: rs886054154
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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 RCV000360872 SCV000410487 uncertain significance Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057474 SCV002380469 likely benign Rhabdoid tumor predisposition syndrome 2 2022-08-12 criteria provided, single submitter clinical testing

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