ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.4606-7T>C

gnomAD frequency: 0.00757  dbSNP: rs74444271
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880981 SCV001024116 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000880981 SCV001982321 likely benign not provided 2021-03-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446520 SCV004172404 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000880981 SCV005258212 likely benign not provided criteria provided, single submitter not provided

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