ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2533C>T (p.Leu845=)

dbSNP: rs1281904866
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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 RCV000574817 SCV000665071 likely benign Hereditary cancer-predisposing syndrome 2016-02-26 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780094 SCV000917128 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060418 SCV002334697 likely benign Hereditary diffuse gastric adenocarcinoma 2023-10-27 criteria provided, single submitter clinical testing

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