ClinVar Miner

Submissions for variant NM_006214.4(PHYH):c.1010_1012dup (p.Leu338_Ter339insHis) (rs566116760)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513200 SCV000608536 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625407 SCV000745257 likely benign Phytanic acid storage disease 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV000513200 SCV001110661 likely benign not provided 2020-11-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000513200 SCV001713529 uncertain significance not provided 2020-09-08 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV000755124 SCV000882946 likely pathogenic Nonsyndromic cleft lip palate 2016-03-27 no assertion criteria provided research

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.