ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2340C>T (p.Pro780=) (rs142230276)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076852 SCV000108344 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
GeneDx RCV000121852 SCV000171040 benign not specified 2013-11-06 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.
Ambry Genetics RCV000162402 SCV000212732 benign Hereditary cancer-predisposing syndrome 2014-09-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121852 SCV000226038 benign not specified 2016-03-15 criteria provided, single submitter clinical testing
Invitae RCV000755367 SCV000252718 benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121852 SCV000304730 benign not specified criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121852 SCV000592951 benign not specified 2015-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121852 SCV000604891 benign not specified 2018-07-06 criteria provided, single submitter clinical testing
Counsyl RCV000662626 SCV000785295 benign Hereditary nonpolyposis colorectal cancer type 4 2017-06-29 criteria provided, single submitter clinical testing
ITMI RCV000121852 SCV000086054 not provided not specified 2013-09-19 no assertion provided reference population
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121852 SCV000691959 benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000162402 SCV000788114 likely benign Hereditary cancer-predisposing syndrome 2017-08-22 no assertion criteria provided clinical testing

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