ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6641C>T (p.Pro2214Leu)

gnomAD frequency: 0.00001  dbSNP: rs767278261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754177 SCV001987175 uncertain significance not provided 2021-04-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001754177 SCV002398220 benign not provided 2023-08-17 criteria provided, single submitter clinical testing

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