ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2007-4G>A (rs1805326)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162400 SCV000212726 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000605440 SCV000785193 benign Hereditary nonpolyposis colorectal cancer type 4 2017-06-13 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000605440 SCV000745185 benign Hereditary nonpolyposis colorectal cancer type 4 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000079107 SCV000592944 benign not specified criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605440 SCV000734560 benign Hereditary nonpolyposis colorectal cancer type 4 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079107 SCV000110976 benign not specified 2014-12-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000076842 SCV000469718 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076842 SCV000108330 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000076842 SCV000252713 benign Lynch syndrome 2017-01-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079107 SCV000711444 benign not specified 2017-04-20 criteria provided, single submitter clinical testing c.2007-4G>A in intron 11 of PMS2: This variant is not expected to have clinical significance because it has been identified in 29% (3575/12334) of East Asian ch romosomes by the Genome Aggregation Database (GnomAD, http://gnomad.broadinstitu te.org; dbSNP rs1805326).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079107 SCV000691962 benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000144647 SCV000189974 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000079107 SCV000304727 benign not specified criteria provided, single submitter clinical testing

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