ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2295+14A>G

gnomAD frequency: 0.00001  dbSNP: rs1024244866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424459 SCV000512529 likely benign not specified 2016-03-02 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 RCV000579467 SCV000684417 likely benign Hereditary cancer-predisposing syndrome 2016-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061354 SCV002443628 likely benign Hereditary diffuse gastric adenocarcinoma 2023-04-25 criteria provided, single submitter clinical testing

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