ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.532-18C>T (rs200673941)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212352 SCV000149771 benign not specified 2014-07-17 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.
Invitae RCV000119120 SCV000153833 benign Hereditary diffuse gastric cancer 2015-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115862 SCV000172889 benign Hereditary cancer-predisposing syndrome 2014-12-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Intronic alteration with no splicing impact by rt-pcr analysis or other splicing assay;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene;Subpopulation frequency in support of benign classification
PreventionGenetics,PreventionGenetics RCV000212352 SCV000310134 likely benign not specified criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000115862 SCV000576453 likely benign Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing
Color Health, Inc RCV000115862 SCV000684468 likely benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679551 SCV000806623 likely benign not provided 2015-11-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000212352 SCV000860261 benign not specified 2018-04-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000679551 SCV001150947 likely benign not provided 2016-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285787 SCV001472271 benign none provided 2020-04-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000212352 SCV000691815 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000679551 SCV001741428 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000212352 SCV001809005 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000212352 SCV001921442 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000679551 SCV001953605 likely benign not provided no assertion criteria provided clinical testing

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