ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2361T>C (p.Val787=)

gnomAD frequency: 0.00001  dbSNP: rs1555517864
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581692 SCV000689514 likely benign Hereditary cancer-predisposing syndrome 2017-04-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780089 SCV000917121 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581692 SCV001176112 likely benign Hereditary cancer-predisposing syndrome 2019-09-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV002061797 SCV002345569 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-08 criteria provided, single submitter clinical testing

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