ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1944-12C>A

dbSNP: rs149763341
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199146 SCV001370142 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-05-09 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
GeneDx RCV001586038 SCV001813590 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001199146 SCV002382890 likely benign Rhabdoid tumor predisposition syndrome 2 2025-02-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258153 SCV002532803 likely benign Hereditary cancer-predisposing syndrome 2020-07-02 criteria provided, single submitter curation

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