ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp)

gnomAD frequency: 0.00031  dbSNP: rs143991928
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
Genetic Services Laboratory, University of Chicago RCV000122016 SCV000597005 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
Invitae RCV000652643 SCV000774514 benign Luscan-Lumish syndrome 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001719891 SCV001947239 benign not provided 2019-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002514650 SCV003674222 likely benign Inborn genetic diseases 2022-11-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004530034 SCV004746833 benign SETD2-related disorder 2019-09-24 criteria provided, single submitter 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).
ITMI RCV000122016 SCV000086227 not provided not specified 2013-09-19 no assertion provided reference population

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.