ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.906C>T (p.Tyr302=)

gnomAD frequency: 0.00002  dbSNP: rs370197479
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206177 SCV000260549 likely benign Hereditary diffuse gastric adenocarcinoma 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001722124 SCV000526548 likely benign not provided 2019-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571412 SCV000666270 likely benign Hereditary cancer-predisposing syndrome 2015-06-22 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.
Color Diagnostics, LLC DBA Color Health RCV000571412 SCV000684495 likely benign Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000423775 SCV000919111 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571412 SCV002529226 likely benign Hereditary cancer-predisposing syndrome 2021-06-13 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 RCV000206177 SCV003926705 likely benign Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing BS2_Supporting; BP7 (PMID: 30311375)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001722124 SCV004220850 likely benign not provided 2023-07-26 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000206177 SCV005405320 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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