ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.*24_*28del

dbSNP: rs587779200
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662802 SCV000785622 uncertain significance Lynch syndrome 5 2017-10-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759839 SCV000889449 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180293 SCV001345187 likely benign Hereditary cancer-predisposing syndrome 2022-01-02 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267826 SCV002552388 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537270 SCV004741199 likely benign MSH6-related disorder 2019-09-16 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).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000074612 SCV000204325 not provided Lynch syndrome 2011-09-21 no assertion provided clinical testing Outside test coverage region (UNCLASSIFED): The *20_*24del variant has not been reported or previously identified by our laboratory. This variant is located in the 3' UTR and its effect on gene expression cannot be determine at this time. Therefore, this variant is of unknown clinical significance.

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