ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2123+7G>T

gnomAD frequency: 0.00001  dbSNP: rs748276210
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540921 SCV000647989 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-11 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237917 SCV002010719 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809500 SCV002056820 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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