ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2165-4C>T

dbSNP: rs1060504170
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476309 SCV000557389 likely benign Hereditary diffuse gastric adenocarcinoma 2023-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000616661 SCV000725640 likely benign not specified 2017-12-06 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.
Ambry Genetics RCV001014658 SCV001175393 likely benign Hereditary cancer-predisposing syndrome 2023-07-20 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.
Myriad Genetics, Inc. RCV000476309 SCV005406906 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-20 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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