ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.101del (p.Gln34fs)

dbSNP: rs748142049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001030787 SCV000027660 pathogenic Autosomal recessive juvenile Parkinson disease 2 2003-04-22 no assertion criteria provided literature only
Section for Clinical Neurogenetics, University of Tübingen RCV001030787 SCV001156100 pathogenic Autosomal recessive juvenile Parkinson disease 2 2019-08-01 no assertion criteria provided research

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