ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.-6G>T

dbSNP: rs730881822
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160736 SCV000211374 benign not specified 2014-08-08 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.
Color Diagnostics, LLC DBA Color Health RCV000580307 SCV000685151 likely benign Hereditary cancer-predisposing syndrome 2016-07-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311926 SCV001502305 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003315963 SCV004017891 likely benign Lynch syndrome 5 2023-02-16 criteria provided, single submitter clinical testing This variant is considered likely benign. Homozygosity for this variant has been confirmed in one or more individuals lacking clinical features consistent with gene-specific recessive disease, indicating that this variant is unlikely to be pathogenic.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000160736 SCV004024777 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998518 SCV004822613 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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