ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.706-5_706-4del

dbSNP: rs60794673
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Total submissions: 13
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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 RCV000202811 SCV000257706 benign Lynch syndrome 2015-07-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000584541 SCV000691105 benign Hereditary cancer-predisposing syndrome 2022-11-03 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625387 SCV000745196 benign Lynch syndrome 4 2016-06-08 criteria provided, single submitter clinical testing
Invitae RCV001520936 SCV001730153 benign Hereditary nonpolyposis colorectal neoplasms 2023-07-16 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237763 SCV002009092 benign not provided 2021-11-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001356473 SCV002550744 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584541 SCV002662443 likely benign Hereditary cancer-predisposing syndrome 2014-12-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625387 SCV000745848 benign Lynch syndrome 4 2015-05-08 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356473 SCV001551653 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001356473 SCV001742703 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001356473 SCV001798750 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001356473 SCV001905924 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001356473 SCV001919043 benign not specified no assertion criteria provided clinical testing

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