ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.1146T>G (p.Asp382Glu)

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
Ambry Genetics RCV004678319 SCV005179946 uncertain significance Inborn genetic diseases 2024-05-09 criteria provided, single submitter clinical testing The c.1146T>G (p.D382E) alteration is located in exon 11 (coding exon 10) of the WDR72 gene. This alteration results from a T to G substitution at nucleotide position 1146, causing the aspartic acid (D) at amino acid position 382 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006483 SCV005638207 uncertain significance Amelogenesis imperfecta hypomaturation type 2A3 2024-05-22 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.