ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.388-8C>T

gnomAD frequency: 0.00002  dbSNP: rs774601444
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084992 SCV000259388 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581617 SCV000689534 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679574 SCV000806668 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000679574 SCV001945444 benign not provided 2015-04-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000581617 SCV002529180 benign Hereditary cancer-predisposing syndrome 2020-10-30 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267936 SCV002551749 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002267936 SCV002570764 uncertain significance not specified 2022-07-14 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 RCV001084992 SCV003927040 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing Not applicable criteria (PMID: 30311375)
Myriad Genetics, Inc. RCV001084992 SCV005405292 benign Hereditary diffuse gastric adenocarcinoma 2024-09-12 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679574 SCV005624922 uncertain significance not provided 2024-03-23 criteria provided, single submitter clinical testing The CDH1 c.388-8C>T variant has been reported in the published literature in an individual with a family history of breast cancer (PMID: 36436516 (2023)). The frequency of this variant in the general population, 0.000062 (7/113642 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. 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.

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