Submissions for variant NM_000535.7(PMS2):c.2127C>T (p.Phe709=)

gnomAD frequency: 0.00008  dbSNP: rs199943748

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000588071	SCV000225529	uncertain significance	not provided	2015-02-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000213544	SCV000274053	likely benign	Hereditary cancer-predisposing syndrome	2014-12-18	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	RCV001085912	SCV000285106	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-25	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000855625	SCV000697330	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000588071	SCV000806198	likely benign	not provided	2017-09-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000588071	SCV001747498	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	PMS2: BP4, BP7
GeneDx	RCV000588071	SCV001870716	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000213544	SCV002530262	likely benign	Hereditary cancer-predisposing syndrome	2021-09-16	criteria provided, single submitter	curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150046	SCV003838383	likely benign	Breast and/or ovarian cancer	2022-05-06	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000855625	SCV004243279	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000213544	SCV004359547	likely benign	Hereditary cancer-predisposing syndrome	2022-09-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000855625	SCV003839885	likely benign	not specified	2022-06-28	no assertion criteria provided	clinical testing