ClinVar Miner

Submissions for variant NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)

gnomAD frequency: 0.00021  dbSNP: rs121434424
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180221 SCV000232617 uncertain significance not provided 2014-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005089199 SCV000770835 benign Progressive myoclonic epilepsy type 8 2024-12-16 criteria provided, single submitter clinical testing
OMIM RCV000007141 SCV000027337 pathogenic Tetralogy of Fallot 2007-11-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003924808 SCV004742811 likely benign GDF1-related disorder 2020-10-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.