ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.706-4del (rs60794673)

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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 RCV000564416 SCV000663426 benign Hereditary cancer-predisposing syndrome 2017-05-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000564416 SCV000691102 benign Hereditary cancer-predisposing syndrome 2017-07-05 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000415703 SCV000745197 benign Hereditary nonpolyposis colorectal cancer type 4 2017-06-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000415703 SCV000734566 benign Hereditary nonpolyposis colorectal cancer type 4 no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203188 SCV000257705 benign Lynch syndrome 2015-04-17 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203188 SCV000257707 benign Lynch syndrome 2015-07-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000415703 SCV000745847 likely benign Hereditary nonpolyposis colorectal cancer type 4 2015-04-22 no assertion criteria provided clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415703 SCV000493782 uncertain significance Hereditary nonpolyposis colorectal cancer type 4 2015-10-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000454744 SCV000540065 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency

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