ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) (rs63750447)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 17
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129936 SCV000184754 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034537 SCV000043322 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Color RCV000129936 SCV000684719 benign Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
Counsyl RCV000662558 SCV000785156 benign Lynch syndrome II 2017-05-09 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000437810 SCV000504967 likely pathogenic Lung adenocarcinoma 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420168 SCV000504968 likely pathogenic Adenocarcinoma of stomach 2015-07-14 no assertion criteria provided literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121360 SCV000592396 benign not specified 2014-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics RCV000755644 SCV000883043 likely benign Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000121360 SCV000170294 benign not specified 2013-10-03 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.
Genetic Services Laboratory, University of Chicago RCV000121360 SCV000595802 likely benign not specified 2016-05-25 criteria provided, single submitter clinical testing
ITMI RCV000121360 SCV000085541 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000075123 SCV000443333 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075123 SCV000106114 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000524224 SCV000166240 benign Hereditary nonpolyposis colon cancer 2018-01-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000121360 SCV000539632 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 3.9% East Asian chromosomes
Pathway Genomics RCV000144609 SCV000189936 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000121360 SCV000303143 benign not specified 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.