ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2271C>T (p.Tyr757=) (rs56076152)

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
Ambry Genetics RCV000163040 SCV000213530 likely benign Hereditary cancer-predisposing syndrome 2014-11-07 criteria provided, single submitter clinical testing
Invitae RCV001080852 SCV000253154 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-23 criteria provided, single submitter clinical testing
Color RCV000163040 SCV000685029 likely benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759113 SCV000888219 benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001140259 SCV001300498 uncertain significance Lynch syndrome I 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.

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.