ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1119G>A (p.Pro373=)

gnomAD frequency: 0.00002  dbSNP: rs758258272
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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 RCV000163832 SCV000214418 likely benign Hereditary cancer-predisposing syndrome 2014-08-29 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 RCV000232956 SCV000288418 likely benign Hereditary diffuse gastric adenocarcinoma 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001704181 SCV000517121 likely benign not provided 2019-12-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163832 SCV000684327 likely benign Hereditary cancer-predisposing syndrome 2017-02-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000442056 SCV001362043 likely benign not specified 2019-07-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163832 SCV002531139 likely benign Hereditary cancer-predisposing syndrome 2021-06-27 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 RCV000232956 SCV003926729 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing Not applicable criteria (PMID: 30311375)
Myriad Genetics, Inc. RCV000232956 SCV005406478 benign Hereditary diffuse gastric adenocarcinoma 2024-09-18 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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