ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.3732-14C>T

gnomAD frequency: 0.02361  dbSNP: rs2293991
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001717346 SCV001943703 benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001717346 SCV002408319 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446876 SCV004172399 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001717346 SCV005282418 benign not provided criteria provided, single submitter not provided

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