ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.5239G>A (p.Val1747Ile)

gnomAD frequency: 0.00024  dbSNP: rs368636412
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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 RCV001436298 SCV001639136 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001436298 SCV001896027 benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458705 SCV004179669 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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