ClinVar Miner

Submissions for variant NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp) (rs189033496)

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
Genetic Services Laboratory, University of Chicago RCV000193105 SCV000247507 uncertain significance not specified 2015-06-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000764929 SCV000347066 uncertain significance Chudley-McCullough syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics,Fulgent Genetics RCV000764929 SCV000896101 uncertain significance Chudley-McCullough syndrome 2018-10-31 criteria provided, single submitter 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.