ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.438A>G (p.Gln146=) (rs377279035)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000781994 SCV000920451 likely benign Lynch syndrome 2018-10-18 reviewed by expert panel curation No effect on splicing & Multifactorial Posterior Probabilty = 0.006
Invitae RCV000205930 SCV000260540 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000504199 SCV000592358 likely benign not specified 2012-12-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000504199 SCV000601400 uncertain significance not specified 2016-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575797 SCV000669525 likely benign Hereditary cancer-predisposing syndrome 2015-04-19 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.
Color RCV000575797 SCV000684830 likely benign Hereditary cancer-predisposing syndrome 2015-05-29 criteria provided, single submitter clinical testing
Counsyl RCV000662701 SCV000785445 uncertain significance Lynch syndrome II 2017-08-10 criteria provided, single submitter clinical testing
GeneKor MSA RCV000575797 SCV000821798 likely benign Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Mendelics RCV000662701 SCV001136376 benign Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing

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