ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.531+9A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477148 SCV004220835 uncertain significance not provided 2023-02-22 criteria provided, single submitter clinical testing This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect CDH1 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Myriad Genetics, Inc. RCV004786947 SCV005403896 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-13 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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