ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2440-16G>T

gnomAD frequency: 0.00001  dbSNP: rs745826347
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431702 SCV000517970 likely benign not specified 2016-04-04 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 RCV000774779 SCV000908771 likely benign Hereditary cancer-predisposing syndrome 2018-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062299 SCV002386322 likely benign Hereditary diffuse gastric adenocarcinoma 2023-12-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002062299 SCV005405356 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-23 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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