ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.249T>C (p.Ile83=)

dbSNP: rs878854687
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772155 SCV000905264 likely benign Hereditary cancer-predisposing syndrome 2018-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772155 SCV001176630 likely benign Hereditary cancer-predisposing syndrome 2019-08-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001488332 SCV001692842 likely benign Hereditary diffuse gastric adenocarcinoma 2023-02-05 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 RCV001488332 SCV003927009 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing PM2 (PMID: 30311375)
Myriad Genetics, Inc. RCV001488332 SCV005405195 benign Hereditary diffuse gastric adenocarcinoma 2024-09-12 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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