ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.924T>C (p.Asp308=)

dbSNP: rs1555515629
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602754 SCV000714383 likely benign not specified 2017-08-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759020 SCV000888046 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019072 SCV001180382 likely benign Hereditary cancer-predisposing syndrome 2015-12-08 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 RCV001506177 SCV001711093 likely benign Hereditary diffuse gastric adenocarcinoma 2022-12-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001019072 SCV001734844 likely benign Hereditary cancer-predisposing syndrome 2020-06-22 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 RCV001506177 SCV003926706 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing PM2; BP7 (PMID: 30311375)
Myriad Genetics, Inc. RCV001506177 SCV005403923 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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