ClinVar Miner

Submissions for variant NM_004403.3(GSDME):c.521T>C (p.Met174Thr)

gnomAD frequency: 0.00242  dbSNP: rs876306
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) RCV000733592 SCV000861674 likely benign not specified 2018-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000969032 SCV001116523 benign not provided 2024-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000969032 SCV001867574 benign not provided 2019-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000969032 SCV005224698 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004972928 SCV005594231 likely benign Inborn genetic diseases 2024-09-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.