ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4171-1861A>G

dbSNP: rs771462690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198757 SCV001369752 uncertain significance Rhabdoid tumor predisposition syndrome 2 2020-03-26 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: PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001198757 SCV002332563 likely benign Rhabdoid tumor predisposition syndrome 2 2023-12-02 criteria provided, single submitter clinical testing

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