ClinVar Miner

Submissions for variant NM_003719.5(PDE8B):c.211C>T (p.Arg71Cys)

dbSNP: rs764380392
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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 RCV001253653 SCV001429488 uncertain significance Autosomal dominant striatal neurodegeneration type 1 2018-02-27 criteria provided, single submitter clinical testing

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