ClinVar Miner

Submissions for variant NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) (rs112170602)

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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513704 SCV000610026 likely benign not provided 2017-05-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121422 SCV000229965 benign not specified 2015-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000121422 SCV000616754 likely benign not specified 2017-10-28 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.
Genetic Services Laboratory, University of Chicago RCV000146150 SCV000193372 uncertain significance Kabuki syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
ITMI RCV000121422 SCV000085613 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000377054 SCV000379200 likely benign Kabuki syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000377054 SCV000636631 likely benign Kabuki syndrome 2017-04-06 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.