ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg)

gnomAD frequency: 0.00003  dbSNP: rs369793136
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
Eurofins Ntd Llc (ga) RCV000724345 SCV000224689 uncertain significance not provided 2014-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000724345 SCV000617180 uncertain significance not provided 2019-05-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001275275 SCV002055423 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724345 SCV002394215 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275275 SCV001460254 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2020-09-16 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.