ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1902G>A (p.Leu634=)

dbSNP: rs1572724876
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001422530 SCV001625083 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-10-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265911 SCV002547887 likely benign not specified 2022-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409244 SCV002718178 likely benign Hereditary cancer-predisposing syndrome 2021-03-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478591 SCV004221162 uncertain significance not provided 2023-02-22 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in individuals with MSH6-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). 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 MSH6 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
All of Us Research Program, National Institutes of Health RCV004004320 SCV004835545 likely benign Lynch syndrome 2023-10-02 criteria provided, single submitter clinical testing

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