ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2527G>T (p.Asp843Tyr)

gnomAD frequency: 0.00001  dbSNP: rs370738148
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598239 SCV000703759 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278926 SCV003957443 uncertain significance Inborn genetic diseases 2023-04-04 criteria provided, single submitter clinical testing The c.2527G>T (p.D843Y) alteration is located in exon 22 (coding exon 22) of the WDR62 gene. This alteration results from a G to T substitution at nucleotide position 2527, causing the aspartic acid (D) at amino acid position 843 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.