ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1277-8T>C (rs145400590)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132507 SCV000187603 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000132507 SCV000910604 benign Hereditary cancer-predisposing syndrome 2015-09-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000201991 SCV000110270 benign not specified 2013-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000201991 SCV000170335 benign not specified 2013-11-05 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 RCV000122980 SCV000166261 benign Hereditary nonpolyposis colon cancer 2018-01-03 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000201991 SCV000257135 uncertain significance not specified no assertion criteria provided research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000201991 SCV000601429 benign not specified 2017-04-24 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000132507 SCV000788029 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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