ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3960A>G (p.Ala1320=)

gnomAD frequency: 0.00042  dbSNP: rs373425206
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212692 SCV000211366 benign not specified 2014-08-29 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.
Ambry Genetics RCV000160731 SCV000213897 likely benign Hereditary cancer-predisposing syndrome 2014-07-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084183 SCV000261398 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-28 criteria provided, single submitter clinical testing
Counsyl RCV000409788 SCV000488676 likely benign Lynch syndrome 5 2016-05-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000160731 SCV000685468 likely benign Hereditary cancer-predisposing syndrome 2015-09-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000212692 SCV000917749 likely benign not specified 2020-07-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000205020 SCV001134447 benign not provided 2019-04-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212692 SCV002066747 likely benign not specified 2022-01-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000160731 SCV002536301 likely benign Hereditary cancer-predisposing syndrome 2021-04-05 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000409788 SCV004018870 benign Lynch syndrome 5 2023-03-28 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health RCV003998517 SCV004835174 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000160731 SCV000788054 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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