ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.48+7C>T

gnomAD frequency: 0.00001  dbSNP: rs587782380
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131378 SCV000186354 likely benign Hereditary cancer-predisposing syndrome 2013-09-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759735 SCV000889262 likely benign not provided 2019-08-14 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004786394 SCV005406796 likely benign Hereditary diffuse gastric adenocarcinoma 2024-09-10 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 RCV003894995 SCV004716325 likely benign CDH1-related disorder 2022-12-15 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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