Submissions for variant NM_000535.7(PMS2):c.989-8dup

dbSNP: rs1333503820

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000552454	SCV000625715	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-04-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000583783	SCV000691130	likely benign	Hereditary cancer-predisposing syndrome	2016-12-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330749	SCV004038296	uncertain significance	not specified	2023-08-07	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003478116	SCV004219043	uncertain significance	not provided	2023-05-30	criteria provided, single submitter	clinical testing	To the best of our knowledge, this variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect PMS2 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
All of Us Research Program, National Institutes of Health	RCV004003770	SCV004831762	likely benign	Lynch syndrome	2023-07-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960248	SCV004766827	likely benign	PMS2-related disorder	2023-05-04	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).