ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) (rs113987077)

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
Ambry Genetics RCV000715935 SCV000846767 benign Seizures 2016-02-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177347 SCV000229195 benign not specified 2014-08-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270799 SCV000435217 benign Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464005 SCV000555920 benign Neuronal ceroid lipofuscinosis 2017-08-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675868 SCV000801593 benign not provided 2016-12-30 no assertion criteria provided clinical testing
PreventionGenetics RCV000177347 SCV000314602 benign not specified criteria provided, single submitter clinical testing

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.