ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.23+10G>C (rs192027828)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130558 SCV000185428 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000130558 SCV000686179 likely benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Counsyl RCV000409370 SCV000489257 likely benign Hereditary nonpolyposis colorectal cancer type 4 2016-09-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000409370 SCV000734571 likely benign Hereditary nonpolyposis colorectal cancer type 4 no assertion criteria provided clinical testing
GeneDx RCV000212835 SCV000171045 benign not specified 2013-12-17 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.
Genetic Services Laboratory, University of Chicago RCV000212835 SCV000596475 likely benign not specified 2016-08-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000409370 SCV000743787 likely benign Hereditary nonpolyposis colorectal cancer type 4 2016-02-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000409370 SCV000745851 likely benign Hereditary nonpolyposis colorectal cancer type 4 2016-07-11 no assertion criteria provided clinical testing
Invitae RCV000119180 SCV000153913 benign Hereditary nonpolyposis colon cancer 2018-01-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000212835 SCV000806203 benign not specified 2017-02-24 criteria provided, single submitter clinical testing

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