ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.745A>G (p.Ile249Val)

gnomAD frequency: 0.00357  dbSNP: rs149588872
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651848 SCV000773704 benign Juvenile onset Parkinson disease 19A 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001672917 SCV001882070 benign not provided 2020-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000651848 SCV004049374 benign Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672917 SCV004128244 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing DNAJC6: BS2
Breakthrough Genomics, Breakthrough Genomics RCV001672917 SCV005287364 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003945661 SCV004765040 benign DNAJC6-related disorder 2019-10-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.