ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.4002-14T>C

gnomAD frequency: 0.00003  dbSNP: rs587781041
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126837 SCV000170365 benign not specified 2014-03-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000409445 SCV000488115 uncertain significance Lynch syndrome 5 2015-12-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776217 SCV000911384 likely benign Hereditary cancer-predisposing syndrome 2016-01-25 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000126837 SCV002552383 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000409445 SCV004019042 likely benign Lynch syndrome 5 2023-03-29 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
All of Us Research Program, National Institutes of Health RCV003997445 SCV004819165 likely benign Lynch syndrome 2024-07-20 criteria provided, single submitter clinical testing

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