ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3300G>A (p.Thr1100=) (rs540252208)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164766 SCV000215442 likely benign Hereditary cancer-predisposing syndrome 2014-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000443070 SCV000513698 benign not specified 2015-08-04 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000443070 SCV000601571 likely benign not specified 2017-04-27 criteria provided, single submitter clinical testing
Invitae RCV000759142 SCV000624842 likely benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Color RCV000164766 SCV000685386 likely benign Hereditary cancer-predisposing syndrome 2016-05-22 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000758625 SCV000887382 likely benign Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing MSH6 NM_000179.2:c.3300G>A has a 1.6% probability of pathogenicity based on combining prior probability from public data with likelihood ratios of 1.56 and 0.20 to 1, generated from evidence of seeing this as a somatic mutation in two independent tumors without loss of heterozygosity at the MSH6 locus. See Shirts et al 2018, PMID 29887214.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759142 SCV000888271 benign not provided 2018-08-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000759142 SCV000892560 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
Mendelics RCV000986733 SCV001135837 likely benign Hereditary nonpolyposis colorectal cancer type 5 2019-05-28 criteria provided, single submitter clinical testing

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