ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.978+13A>G

gnomAD frequency: 0.00003  dbSNP: rs760659884
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
PreventionGenetics, part of Exact Sciences RCV000245999 SCV000316353 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000245999 SCV001984671 likely benign not specified 2020-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058429 SCV002327223 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-10-04 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.