ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.957T>A (p.Ile319=)

gnomAD frequency: 0.00002  dbSNP: rs549252135
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165290 SCV000216008 likely benign Hereditary cancer-predisposing syndrome 2014-08-08 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 RCV001085694 SCV000288501 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165290 SCV000908728 likely benign Hereditary cancer-predisposing syndrome 2018-09-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000233006 SCV001134094 likely benign not provided 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000233006 SCV001858300 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165290 SCV002529229 benign Hereditary cancer-predisposing syndrome 2020-12-26 criteria provided, single submitter curation
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto RCV001085694 SCV003926708 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing Not applicable criteria (PMID: 30311375)
Myriad Genetics, Inc. RCV001085694 SCV005405245 benign Hereditary diffuse gastric adenocarcinoma 2024-09-17 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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