ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1680G>A (p.Thr560=)

dbSNP: rs35741240
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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 RCV000162435 SCV000212783 likely benign Hereditary cancer-predisposing syndrome 2014-10-17 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 RCV000231043 SCV000288443 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001704154 SCV000515548 likely benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000430199 SCV000600963 likely benign not specified 2016-08-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162435 SCV001346478 likely benign Hereditary cancer-predisposing syndrome 2016-01-22 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 RCV000231043 SCV003926829 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing PM2 (PMID: 30311375)
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315977 SCV004017012 likely benign Malignant tumor of prostate 2023-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000231043 SCV005406482 benign Hereditary diffuse gastric adenocarcinoma 2024-09-19 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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