Submissions for variant NM_000535.7(PMS2):c.2358G>C (p.Leu786=)

gnomAD frequency: 0.00004  dbSNP: rs535056715

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164056	SCV000214664	likely benign	Hereditary cancer-predisposing syndrome	2014-08-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080792	SCV000562221	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-12-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679357	SCV000806206	likely benign	not provided	2018-01-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001174679	SCV001337912	likely benign	not specified	2020-01-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000679357	SCV001863382	benign	not provided	2015-08-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000164056	SCV004359004	likely benign	Hereditary cancer-predisposing syndrome	2022-07-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001174679	SCV001921418	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000679357	SCV001953058	likely benign	not provided		no assertion criteria provided	clinical testing