ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1008+8G>A

gnomAD frequency: 0.00001  dbSNP: rs990193541
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531274 SCV000637687 likely benign Hereditary diffuse gastric adenocarcinoma 2021-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002060314 SCV002497925 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing CDH1: BP4
Myriad Genetics, Inc. RCV000531274 SCV005407122 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-17 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
PreventionGenetics, part of Exact Sciences RCV003960305 SCV004768325 likely benign CDH1-related disorder 2023-06-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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