ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1008+47T>C

gnomAD frequency: 0.01435  dbSNP: rs34374107
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001693380 SCV001907549 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268562 SCV002551763 benign not specified 2023-08-15 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 RCV003229627 SCV003926717 benign Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing BA1 (PMID: 30311375)
Breakthrough Genomics, Breakthrough Genomics RCV001693380 SCV005248456 benign not provided criteria provided, single submitter not provided

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