ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.113C>T (p.Ala38Val)

gnomAD frequency: 0.00001  dbSNP: rs971589755
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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 RCV002000828 SCV002277491 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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