ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.373-14C>T

gnomAD frequency: 0.00970  dbSNP: rs4083900
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001733287 SCV001981973 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001733287 SCV002406104 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446881 SCV004172383 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001733287 SCV005258172 likely benign not provided criteria provided, single submitter not provided

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