Submissions for variant NM_000535.7(PMS2):c.1668A>G (p.Glu556=)

gnomAD frequency: 0.00003  dbSNP: rs876659780

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000219032	SCV000276602	likely benign	Hereditary cancer-predisposing syndrome	2015-06-23	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.
Invitae	RCV000232003	SCV000285080	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000587076	SCV000697295	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000219032	SCV001734721	likely benign	Hereditary cancer-predisposing syndrome	2020-08-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001711511	SCV001944117	likely benign	not provided	2018-12-27	criteria provided, single submitter	clinical testing