ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6516C>T (p.Tyr2172=)

gnomAD frequency: 0.00002  dbSNP: rs756099099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890293 SCV002149676 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001890293 SCV004123919 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing CACNA1E: BP4, BP7
Genome-Nilou Lab RCV003458782 SCV004179695 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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