ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2511G>A (p.Leu837=)

gnomAD frequency: 0.00270  dbSNP: rs149628160
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000961623 SCV001108673 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015775 SCV001176648 likely benign Hereditary cancer-predisposing syndrome 2018-09-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000961623 SCV001474149 likely benign not provided 2020-01-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001819034 SCV002047179 benign not specified 2021-05-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819034 SCV002069772 likely benign not specified 2021-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000961623 SCV002499782 uncertain significance not provided 2021-09-29 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards 2015)
Sema4, Sema4 RCV001015775 SCV002536063 likely benign Hereditary cancer-predisposing syndrome 2021-02-19 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001819034 SCV002550522 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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