ClinVar Miner

Submissions for variant NM_012208.4(HARS2):c.980G>A (p.Arg327Gln) (rs778499309)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,University Hospital Copenhagen RCV000782171 SCV000920639 likely pathogenic Perrault syndrome 2 2019-05-20 no assertion criteria provided clinical testing Variant detected as compound heterozygous, together with c.448C>T in a girl with progressive sensorineural hearing impairment. Signs of premature ovarian failure were uncertain due to her young age.

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.