ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.417C>T (p.Gly139=)

gnomAD frequency: 0.00001  dbSNP: rs375517608
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000555297 SCV000634365 benign Amelocerebrohypohidrotic syndrome 2025-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003419938 SCV004141026 benign not provided 2024-07-01 criteria provided, single submitter clinical testing ROGDI: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003935424 SCV004749558 benign ROGDI-related disorder 2019-07-02 no assertion criteria provided clinical testing This variant is classified as 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.