ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.1702A>G (p.Arg568Gly)

dbSNP: rs1322796318
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Schule lab, Hertie Institute for Clinical Brain Research RCV000677356 SCV000700178 pathogenic Spinocerebellar ataxia type 29 2018-02-09 criteria provided, single submitter research

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