ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.10715T>G (p.Ile3572Ser)

gnomAD frequency: 0.00051  dbSNP: rs147014136
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
Eurofins Ntd Llc (ga) RCV000734177 SCV000862300 likely benign not specified 2018-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000891406 SCV001035222 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000891406 SCV001840129 benign not provided 2021-04-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000891406 SCV004129425 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing KMT2A: BP4
Breakthrough Genomics, Breakthrough Genomics RCV000891406 SCV005212839 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003965546 SCV004780629 benign KMT2A-related disorder 2021-11-18 no assertion criteria provided 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).

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.