ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.5140-12del

dbSNP: rs752600141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001646003 SCV001860095 benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001646003 SCV002485747 benign not provided 2025-01-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446854 SCV004172407 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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