ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.400_403del (p.Glu134fs) (rs312262830)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850574 SCV000992795 pathogenic Oral-facial-digital syndrome; Simpson-Golabi-Behmel syndrome, type 2; Joubert syndrome 10 2017-12-31 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group,Broad Institute RCV000590449 SCV000693898 pathogenic Joubert syndrome 10 2017-06-25 criteria provided, single submitter research De novo variant in proband, maternity and paternity confirmed (PS2). Previously reported pathogenic in 2 manuscripts but unclear if same patient described (PMID: 18546297; PMID: 24884629). Protein truncating variants are a known disease mechainism (PVS1) and absent from gnomAD (PM2).
GeneReviews RCV000034016 SCV000057946 pathologic Oral-facial-digital syndrome 2013-02-28 no assertion criteria provided curation Converted during submission to Pathogenic.

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.