ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.*8G>A

gnomAD frequency: 0.00011  dbSNP: rs201223411
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000198728 SCV000253405 likely benign Hereditary diffuse gastric adenocarcinoma 2015-03-27 criteria provided, single submitter clinical testing
Counsyl RCV000198728 SCV000488334 uncertain significance Hereditary diffuse gastric adenocarcinoma 2016-03-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000996294 SCV000600949 likely benign not provided 2023-06-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580435 SCV000684318 likely benign Hereditary cancer-predisposing syndrome 2016-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000996294 SCV001945494 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto RCV000198728 SCV003926978 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing BS2_Supporting (PMID: 30311375)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003491939 SCV004240417 likely benign Breast and/or ovarian cancer 2022-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580435 SCV004848949 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-20 criteria provided, single submitter clinical testing The c.*8G>A alteration is located in the 3' untranslated region (3'UTR) of the CDH1 gene. This alteration consists of a deletion of 1 nucleotides after the last coding exon of the CDH1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003927855 SCV004739489 likely benign CDH1-related disorder 2020-06-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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