ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys)

dbSNP: rs2125193560
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706847 SCV001934373 likely pathogenic Spinocerebellar ataxia type 29 2020-12-18 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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