ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2028A>C (p.Ser676=)

dbSNP: rs1057522032
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562422 SCV000662250 likely benign Hereditary cancer-predisposing syndrome 2016-03-31 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.
Color Diagnostics, LLC DBA Color Health RCV000562422 SCV000690042 likely benign Hereditary cancer-predisposing syndrome 2015-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000603161 SCV000723070 likely benign not specified 2017-09-19 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.
Invitae RCV000630318 SCV000751274 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316735 SCV004015964 likely benign Lynch syndrome 1 2023-07-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000603161 SCV004020516 likely benign not specified 2023-06-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000850 SCV004825183 likely benign Lynch syndrome 2023-07-10 criteria provided, single submitter clinical testing

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