ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1690C>T (p.Leu564=)

dbSNP: rs786201342
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163423 SCV000213968 likely benign Hereditary cancer-predisposing syndrome 2015-08-10 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 RCV000228880 SCV000288445 likely benign Hereditary diffuse gastric adenocarcinoma 2024-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000428009 SCV000528638 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000163423 SCV000908746 likely benign Hereditary cancer-predisposing syndrome 2018-02-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000428009 SCV001442786 likely benign not specified 2020-10-08 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000228880 SCV005404164 benign Hereditary diffuse gastric adenocarcinoma 2024-09-19 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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