ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg)

gnomAD frequency: 0.00004  dbSNP: rs1481262806
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061516 SCV001226261 likely benign CHARGE association 2023-11-24 criteria provided, single submitter clinical testing
GeneDx RCV002225788 SCV002503931 uncertain significance not provided 2023-07-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002482057 SCV002793916 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-05-23 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.