ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.49G>T (p.Glu17Ter)

dbSNP: rs1219237924
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002221918 SCV002499194 likely pathogenic Juvenile onset Parkinson disease 19A 2022-01-20 criteria provided, single submitter clinical testing PVS1, PM2

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