ClinVar Miner

Submissions for variant NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile)

gnomAD frequency: 0.00019  dbSNP: rs2229013
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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490378 SCV000267370 uncertain significance Hypogonadotropic hypogonadism 1 with or without anosmia 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV000490378 SCV001016274 benign Hypogonadotropic hypogonadism 1 with or without anosmia 2024-01-04 criteria provided, single submitter clinical testing
Mendelics RCV000490378 SCV001141469 uncertain significance Hypogonadotropic hypogonadism 1 with or without anosmia 2019-05-28 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.