ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2798G>T (p.Gly933Val)

gnomAD frequency: 0.00010  dbSNP: rs202209141
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713183 SCV000843769 benign not provided 2018-07-19 criteria provided, single submitter clinical testing
Invitae RCV001088547 SCV001091949 benign Luscan-Lumish syndrome 2023-12-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816744 SCV002069404 benign not specified 2018-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001088547 SCV002553714 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713183 SCV004011467 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SETD2: BP4
PreventionGenetics, part of Exact Sciences RCV004544960 SCV004791560 likely benign SETD2-related disorder 2024-02-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics RCV004026825 SCV004947447 likely benign Inborn genetic diseases 2021-03-31 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.

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.