ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg)

dbSNP: rs63750234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076362 SCV000107388 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability 0.95-0.99
Myriad Genetics, Inc. RCV003452881 SCV004186625 likely pathogenic Lynch syndrome 1 2023-08-09 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 18822302, 22102614]. This variant is expected to disrupt protein structure [Myriad internal data].
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723648 SCV001958894 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723648 SCV001969054 likely pathogenic not provided no assertion criteria provided clinical testing

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