ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.5898+10T>C

gnomAD frequency: 0.00030  dbSNP: rs375791346
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776672 SCV002013415 benign not provided 2021-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001776672 SCV002452592 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446916 SCV004172411 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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