ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5865G>A (p.Arg1955=)

gnomAD frequency: 0.00001  dbSNP: rs1448374029
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
GeneDx RCV001591597 SCV001815596 likely benign not provided 2020-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072314 SCV002395089 likely benign CHARGE syndrome 2021-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495939 SCV002795155 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-12-28 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.