ClinVar Miner

Submissions for variant NM_001257988.1(TYMP):c.972C>T (p.Ala324=) (rs131804)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118808 SCV000169695 benign not specified 2011-06-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118808 SCV000232622 benign not specified 2014-10-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118808 SCV000308570 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279726 SCV000439325 benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278985 SCV000484002 benign Fatal Infantile Cardioencephalomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338776 SCV000484003 benign Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000676461 SCV000605515 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118808 SCV000153455 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676461 SCV000802243 benign not provided 2016-02-22 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.