Submissions for variant NM_000535.7(PMS2):c.1936A>C (p.Arg646=)

gnomAD frequency: 0.00004  dbSNP: rs369582237

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001085291	SCV000166381	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-11-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000163542	SCV000214100	likely benign	Hereditary cancer-predisposing syndrome	2014-07-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000123084	SCV000469723	uncertain significance	Lynch syndrome 4	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000679354	SCV000520482	likely benign	not provided	2020-04-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163542	SCV000686168	likely benign	Hereditary cancer-predisposing syndrome	2017-03-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679354	SCV000806191	likely benign	not provided	2017-10-12	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000418482	SCV000918055	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000418482	SCV004025109	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679354	SCV004218969	likely benign	not provided	2023-03-10	criteria provided, single submitter	clinical testing