ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.336C>A (p.Thr112=)

dbSNP: rs876660703
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220595 SCV000278340 likely benign Hereditary cancer-predisposing syndrome 2015-09-01 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 RCV000458590 SCV000557378 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000220595 SCV000684455 likely benign Hereditary cancer-predisposing syndrome 2016-04-21 criteria provided, single submitter clinical testing

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