ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.4212A>G (p.Val1404=)

gnomAD frequency: 0.00086  dbSNP: rs61731221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001637469 SCV001850727 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001637469 SCV002486076 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458735 SCV004179655 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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