ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1711+7G>A

dbSNP: rs762005138
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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 RCV000582253 SCV000689483 likely benign Hereditary cancer-predisposing syndrome 2015-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001496837 SCV001701550 likely benign Hereditary diffuse gastric adenocarcinoma 2023-09-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478314 SCV004220803 uncertain significance not provided 2023-05-04 criteria provided, single submitter clinical testing To the best of our knowledge, the 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. RCV001496837 SCV005406716 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-19 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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