ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1138-13C>G

gnomAD frequency: 0.00001  dbSNP: rs1399457483
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583060 SCV000689435 likely benign Hereditary cancer-predisposing syndrome 2016-03-06 criteria provided, single submitter clinical testing
GeneDx RCV001672884 SCV001887128 benign not provided 2015-06-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061790 SCV002384353 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-24 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 RCV002061790 SCV003926742 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing PM2 (PMID: 30311375)

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