Submissions for variant NM_004360.5(CDH1):c.1009-14C>T

gnomAD frequency: 0.00001  dbSNP: rs368293695

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000410466	SCV000489427	likely benign	Hereditary diffuse gastric adenocarcinoma	2016-10-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000439045	SCV000512516	benign	not specified	2015-04-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV000579900	SCV000684323	likely benign	Hereditary cancer-predisposing syndrome	2016-03-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000410466	SCV002464399	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-01-30	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	RCV000410466	SCV003926719	uncertain significance	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	PM2 (PMID: 30311375)
Myriad Genetics, Inc.	RCV000410466	SCV004019546	likely benign	Hereditary diffuse gastric adenocarcinoma	2023-03-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.