ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.549A>G (p.Gly183=)

gnomAD frequency: 0.13858  dbSNP: rs1834065
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
PreventionGenetics, part of Exact Sciences RCV000116651 SCV000314745 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523128 SCV001732791 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001523128 SCV001907455 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523128 SCV005252532 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116651 SCV000150615 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.