Submissions for variant NM_004360.5(CDH1):c.388-4T>C

gnomAD frequency: 0.00002  dbSNP: rs750722169

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230716	SCV000288480	likely benign	Hereditary diffuse gastric adenocarcinoma	2023-10-25	criteria provided, single submitter	clinical testing
Counsyl	RCV000230716	SCV000489363	likely benign	Hereditary diffuse gastric adenocarcinoma	2016-09-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572124	SCV000668995	likely benign	Hereditary cancer-predisposing syndrome	2018-03-14	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	RCV000572124	SCV000684458	likely benign	Hereditary cancer-predisposing syndrome	2017-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000604379	SCV000714369	likely benign	not specified	2017-07-20	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798739	SCV002043278	uncertain significance	Breast and/or ovarian cancer	2021-07-22	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000230716	SCV004019549	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.