ClinVar Miner

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

dbSNP: rs1333503820
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552454 SCV000625715 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-26 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, 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.
PreventionGenetics, part of Exact Sciences RCV003960248 SCV004766827 likely benign PMS2-related disorder 2023-05-04 criteria provided, single submitter 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).
All of Us Research Program, National Institutes of Health RCV004003770 SCV004831762 likely benign Lynch syndrome 2023-07-10 criteria provided, single submitter clinical testing

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