ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter)

dbSNP: rs137853056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762443 SCV000892763 likely pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
OMIM RCV000007458 SCV000027658 pathogenic Autosomal recessive juvenile Parkinson disease 2 2005-09-01 no assertion criteria provided literature only

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