ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1129+16A>G

gnomAD frequency: 0.28069  dbSNP: rs3815049
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080339 SCV000112234 benign not specified 2012-12-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080339 SCV000309721 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516878 SCV001725239 benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001682772 SCV001905079 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787885 SCV002029280 benign Retinitis pigmentosa 23 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787884 SCV002029281 benign Joubert syndrome 10 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787882 SCV002029282 benign Orofaciodigital syndrome I 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787883 SCV002029283 benign Simpson-Golabi-Behmel syndrome type 2 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682772 SCV005279174 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000080339 SCV000194311 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000080339 SCV001743526 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000080339 SCV001952086 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000080339 SCV001972321 benign not specified no assertion criteria provided 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.