ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.843G>C (p.Val281=)

dbSNP: rs1131690814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492297 SCV000580702 likely benign Hereditary cancer-predisposing syndrome 2013-07-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002527064 SCV003032241 likely benign Hereditary diffuse gastric adenocarcinoma 2022-01-11 criteria provided, single submitter clinical testing

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