ClinVar Miner

Submissions for variant NM_000795.4(DRD2):c.957C>T (p.Pro319=)

gnomAD frequency: 0.37659  dbSNP: rs6277
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179786 SCV000232092 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000179786 SCV000305537 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000179786 SCV000730639 likely benign not specified 2018-03-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001513859 SCV001721549 benign Dystonic disorder 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703447 SCV005219752 likely benign not provided criteria provided, single submitter not provided

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.