ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2724A>G (p.Glu908=) (rs35389622)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212669 SCV000170357 benign not specified 2014-02-18 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 RCV000126829 SCV000214663 likely benign Hereditary cancer-predisposing syndrome 2014-08-28 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.
Invitae RCV001085489 SCV000252627 benign Hereditary nonpolyposis colorectal neoplasms 2020-12-07 criteria provided, single submitter clinical testing
Color Health, Inc RCV000126829 SCV000685316 benign Hereditary cancer-predisposing syndrome 2016-05-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759139 SCV000888265 benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000212669 SCV001468276 benign not specified 2020-12-17 criteria provided, single submitter clinical testing

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