ClinVar Miner

Submissions for variant NM_004667.6(HERC2):c.3687C>T (p.Asp1229=)

gnomAD frequency: 0.00190  dbSNP: rs149204675
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
CeGaT Center for Human Genetics Tuebingen RCV001726939 SCV001961484 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing HERC2: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002496050 SCV002804216 likely benign Prader-Willi syndrome; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Developmental delay with autism spectrum disorder and gait instability 2022-05-09 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.