ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.833-4C>T

dbSNP: rs1960833702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002091662 SCV002434701 likely benign Hereditary diffuse gastric adenocarcinoma 2023-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307988 SCV004007948 likely benign Hereditary cancer-predisposing syndrome 2023-03-17 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. RCV002091662 SCV005405634 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-16 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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