ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1137+86T>G

gnomAD frequency: 0.00568  dbSNP: rs35160345
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328275 SCV001142250 benign CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-08 reviewed by expert panel curation The c.1137+86T>G variant has an allele frequency of 0.0165 (1.65%, 144/8728 alleles) in the African subpopulation of the gnomAD cohort (BA1). Therefore, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BA1.
GeneDx RCV001553291 SCV001774138 likely benign not provided 2018-06-28 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 RCV000991091 SCV003926738 benign Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing BA1 (PMID: 30311375)
University of Washington Department of Laboratory Medicine, University of Washington RCV000208935 SCV000265094 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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