ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6347G>A (p.Arg2116His)

gnomAD frequency: 0.00006  dbSNP: rs372520364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764985 SCV001989533 benign not provided 2021-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001764985 SCV002480810 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503198 SCV002812566 likely benign Developmental and epileptic encephalopathy, 69 2022-03-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002503198 SCV004179690 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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