ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003484521 SCV004229077 likely pathogenic Developmental and epileptic encephalopathy, 42 2023-11-29 criteria provided, single submitter clinical testing

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