ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.3270C>T (p.Asn1090=)

gnomAD frequency: 0.00005  dbSNP: rs768466014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732270 SCV001982184 likely benign not provided 2021-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001732270 SCV002352695 likely benign not provided 2024-11-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458753 SCV004179635 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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