ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.4594T>C (p.Phe1532Leu)

dbSNP: rs2145968180
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806451 SCV002032148 likely pathogenic Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits no assertion criteria provided clinical testing

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