ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1050A>G (p.Pro350=) (rs137937003)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080315 SCV000166239 benign Hereditary nonpolyposis colorectal neoplasms 2020-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163310 SCV000213838 likely benign Hereditary cancer-predisposing syndrome 2014-10-08 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.
GeneDx RCV000443419 SCV000513620 benign not specified 2015-03-24 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.
Color Health, Inc RCV000163310 SCV000537502 likely benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000443419 SCV000696094 likely benign not specified 2021-07-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000588641 SCV000805941 likely benign not provided 2016-12-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588641 SCV000888170 benign not provided 2018-01-09 criteria provided, single submitter clinical testing
Mendelics RCV000987168 SCV001136400 likely benign Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing

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