ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1830C>T (p.His610=)

gnomAD frequency: 0.00004  dbSNP: rs766326295
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469892 SCV000559206 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570499 SCV000662232 likely benign Hereditary cancer-predisposing syndrome 2015-03-30 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.
Color Diagnostics, LLC DBA Color Health RCV000570499 SCV000684981 likely benign Hereditary cancer-predisposing syndrome 2016-11-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174849 SCV001338239 likely benign not specified 2021-07-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284168 SCV001469803 likely benign not provided 2023-07-31 criteria provided, single submitter clinical testing
GeneDx RCV001284168 SCV001935204 benign not provided 2015-03-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002135 SCV004829718 likely benign Lynch syndrome 2023-10-30 criteria provided, single submitter clinical testing

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