ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2010A>C (p.Pro670=)

gnomAD frequency: 0.69474  dbSNP: rs4582839
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522535 SCV001732101 benign Juvenile onset Parkinson disease 19A 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001615216 SCV001840547 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001522535 SCV004049392 benign Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615216 SCV005287372 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579963 SCV001809204 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579963 SCV001964096 benign not specified no assertion criteria provided clinical testing

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