ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.148G>A (p.Ala50Thr)

gnomAD frequency: 0.00008  dbSNP: rs191985301
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652628 SCV000774499 likely benign Luscan-Lumish syndrome 2022-08-31 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000652628 SCV001368812 uncertain significance Luscan-Lumish syndrome 2019-04-11 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
PreventionGenetics, part of Exact Sciences RCV004533419 SCV004727795 likely benign SETD2-related disorder 2022-06-17 no assertion criteria provided 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).

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.