Submissions for variant NM_004360.5(CDH1):c.2164+17dup

dbSNP: rs34939176

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen CDH1 Variant Curation Expert Panel	RCV003328313	SCV001365437	benign	CDH1-related diffuse gastric and lobular breast cancer syndrome	2023-08-10	reviewed by expert panel	curation	The NM_004360.5(CDH1):c.2164+17dup variant has an allele frequency of 0.1034 (10%, 3634/35146 alleles, 197 homozygotes) in the Latino subpopulation of the gnomAD v2.1.1 cohort (BA1; BP2). Therefore, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BA1, BP2.
PreventionGenetics, part of Exact Sciences	RCV000249552	SCV000310126	benign	not specified	2016-04-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000398877	SCV000398577	benign	Hereditary diffuse gastric adenocarcinoma	2016-06-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000580388	SCV000684401	benign	Hereditary cancer-predisposing syndrome	2015-03-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001711815	SCV001940750	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798746	SCV002043262	benign	Breast and/or ovarian cancer	2021-04-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000398877	SCV002406986	benign	Hereditary diffuse gastric adenocarcinoma	2024-02-01	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000249552	SCV002551789	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000249552	SCV000691828	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000249552	SCV001807901	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000249552	SCV001923255	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000249552	SCV001931822	benign	not specified		no assertion criteria provided	clinical testing