ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2109A>G (p.Leu703=)

gnomAD frequency: 0.00967  dbSNP: rs34101027
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 RCV000126395 SCV000169899 benign not specified 2013-10-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085482 SCV000286308 benign Koolen-de Vries syndrome 2025-02-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712037 SCV000842451 benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001085482 SCV002805021 likely benign Koolen-de Vries syndrome 2021-07-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712037 SCV005249244 benign not provided criteria provided, single submitter not provided

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.