ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1416C>G (p.Thr472=)

dbSNP: rs139937234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496441 SCV001701140 likely benign Hereditary diffuse gastric adenocarcinoma 2019-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388530 SCV002697277 likely benign Hereditary cancer-predisposing syndrome 2022-03-01 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.

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