ClinVar Miner

Submissions for variant NM_020821.3(VPS13C):c.4777del (p.Gln1593fs)

dbSNP: rs869312811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Brain and Spine Institute, INSERM RCV000235403 SCV000262820 pathogenic Parkinson disease 2015-11-16 criteria provided, single submitter research
OMIM RCV000210222 SCV000266251 pathogenic Autosomal recessive early-onset Parkinson disease 23 2019-12-20 no assertion criteria provided literature only

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