ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe)

dbSNP: rs2145004096
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetique et Genetique Moleculaire, CHU Besancon RCV002273848 SCV002558708 likely pathogenic Spinocerebellar ataxia type 6; Developmental and epileptic encephalopathy, 42 2022-07-05 criteria provided, single submitter clinical testing Heterozygous de novo variant in a patient with compatible phenotype

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