ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2440-143G>A

gnomAD frequency: 0.01561  dbSNP: rs34238989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560472 SCV001782890 likely benign not provided 2018-06-21 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 RCV003229622 SCV003926947 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing PM2 (PMID: 30311375)

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