ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.27G>A (p.Ser9=)

gnomAD frequency: 0.00001  dbSNP: rs786201257
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163182 SCV000213703 likely benign Hereditary cancer-predisposing syndrome 2015-01-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Color Diagnostics, LLC DBA Color Health RCV000163182 SCV000537463 likely benign Hereditary cancer-predisposing syndrome 2015-08-26 criteria provided, single submitter clinical testing
Invitae RCV000467783 SCV000557388 likely benign Hereditary diffuse gastric adenocarcinoma 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV001528439 SCV001945434 benign not provided 2015-05-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001528439 SCV002046381 benign not provided 2020-11-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267900 SCV002551737 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto RCV000467783 SCV003926693 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing Not applicable criteria (PMID: 30311375)
CeGaT Center for Human Genetics Tuebingen RCV001528439 SCV004140027 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CDH1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003952819 SCV004771159 likely benign CDH1-related disorder 2020-02-26 criteria provided, single submitter 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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528439 SCV001740192 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001528439 SCV001808404 likely benign not provided no assertion criteria provided clinical testing

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