Submissions for variant NM_000535.7(PMS2):c.1944T>C (p.Phe648=)

gnomAD frequency: 0.00015  dbSNP: rs144011908

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162554	SCV000212964	likely benign	Hereditary cancer-predisposing syndrome	2015-03-06	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.
Invitae	RCV000227632	SCV000285093	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162554	SCV000686169	likely benign	Hereditary cancer-predisposing syndrome	2016-04-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586994	SCV000697318	likely benign	not specified	2020-12-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001711430	SCV001944540	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000162554	SCV002530244	likely benign	Hereditary cancer-predisposing syndrome	2022-02-22	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV003995201	SCV004844113	likely benign	Lynch syndrome	2024-01-08	criteria provided, single submitter	clinical testing