ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4594C>T (p.Leu1532=)

gnomAD frequency: 0.00001  dbSNP: rs778775484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002133353 SCV002450650 likely benign Rhabdoid tumor predisposition syndrome 2 2023-09-22 criteria provided, single submitter clinical testing
GeneDx RCV004774626 SCV005382925 uncertain significance not provided 2024-01-21 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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