ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.252A>G (p.Thr84=)

dbSNP: rs1416475937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184574 SCV001350595 likely benign Hereditary cancer-predisposing syndrome 2018-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001184574 SCV002740504 likely benign Hereditary cancer-predisposing syndrome 2020-03-09 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 RCV003624448 SCV004414214 likely benign Hereditary diffuse gastric adenocarcinoma 2023-05-31 criteria provided, single submitter clinical testing

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