ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg)

gnomAD frequency: 0.00006  dbSNP: rs754727332
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
GeneDx RCV000187754 SCV000241351 likely benign not specified 2017-08-28 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.
Invitae RCV000703594 SCV000832500 benign Koolen-de Vries syndrome 2022-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002514010 SCV003685781 likely benign Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV003416115 SCV004140755 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing KANSL1: BS2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251790 SCV001427532 likely benign Intellectual disability 2019-01-01 no assertion criteria provided 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.