ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6535G>A (p.Ala2179Thr)

gnomAD frequency: 0.00002  dbSNP: rs748177305
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001926458 SCV002204592 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing

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