ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.3974G>A (p.Ser1325Asn)

gnomAD frequency: 0.00097  dbSNP: rs149404438
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000914750 SCV001059934 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000914750 SCV001914330 benign not provided 2020-01-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32859249)
CeGaT Center for Human Genetics Tuebingen RCV000914750 SCV004129385 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KMT2A: BS1
PreventionGenetics, part of Exact Sciences RCV003902937 SCV004721274 likely benign KMT2A-related disorder 2020-12-22 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 RCV004029375 SCV004896189 benign Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing This alteration is classified as 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.