ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2165-19G>T

dbSNP: rs1555517632
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582043 SCV000689500 likely benign Hereditary cancer-predisposing syndrome 2017-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000605693 SCV000714449 likely benign not specified 2017-11-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002061793 SCV002399290 likely benign Hereditary diffuse gastric adenocarcinoma 2025-01-19 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002061793 SCV005402802 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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