ClinVar Miner

Submissions for variant NM_000884.3(IMPDH2):c.93_96del (p.Tyr32fs)

dbSNP: rs1330462697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Anu Suomalainen-Wartiovaara lab, University of Helsinki RCV001788490 SCV001712111 likely pathogenic Dystonic disorder 2021-06-08 no assertion criteria provided clinical testing

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