ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.164-17T>C

gnomAD frequency: 0.00002  dbSNP: rs916075301
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422491 SCV000532121 likely benign not specified 2017-04-10 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 RCV000771644 SCV000904266 likely benign Hereditary cancer-predisposing syndrome 2018-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059947 SCV002399496 likely benign Hereditary diffuse gastric adenocarcinoma 2023-10-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002059947 SCV005404159 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-12 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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