ClinVar Miner

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

dbSNP: rs60794673
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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203188 SCV000257705 benign Lynch syndrome 2015-04-17 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203188 SCV000257707 benign Lynch syndrome 2015-07-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham 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
Ambry Genetics RCV000564416 SCV000663426 benign Hereditary cancer-predisposing syndrome 2017-05-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color Diagnostics, LLC DBA Color Health RCV000564416 SCV000691102 benign Hereditary cancer-predisposing syndrome 2021-10-06 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000415703 SCV000745197 benign Lynch syndrome 4 2017-06-28 criteria provided, single submitter clinical testing
Mendelics RCV000415703 SCV001137318 benign Lynch syndrome 4 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262162 SCV001439935 benign Neoplasm of ovary 2019-01-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001689733 SCV001470605 benign not provided 2022-09-23 criteria provided, single submitter clinical testing
Invitae RCV001520436 SCV001729530 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001689733 SCV001911041 benign not provided 2017-12-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798676 SCV002042815 benign Breast and/or ovarian cancer 2019-05-02 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000454744 SCV002568042 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415703 SCV000493782 uncertain significance Lynch syndrome 4 2015-10-23 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000415703 SCV000734566 benign Lynch syndrome 4 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000415703 SCV000745847 likely benign Lynch syndrome 4 2015-04-22 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000454744 SCV001553089 benign not specified no assertion criteria provided clinical testing GnomAD population frequency 44%
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000454744 SCV001799646 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000454744 SCV001905791 benign not specified no assertion criteria provided clinical testing

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