Submissions for variant NM_004360.5(CDH1):c.714C>T (p.Asn238=)

gnomAD frequency: 0.00003  dbSNP: rs780297063

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001718815	SCV000512510	likely benign	not provided	2021-03-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000538548	SCV000637848	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-12-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571904	SCV000666284	likely benign	Hereditary cancer-predisposing syndrome	2015-10-20	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	RCV000571904	SCV000684480	likely benign	Hereditary cancer-predisposing syndrome	2016-10-12	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003492036	SCV004240435	likely benign	Breast and/or ovarian cancer	2023-06-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001718815	SCV005219060	likely benign	not provided		criteria provided, single submitter	not provided
Myriad Genetics, Inc.	RCV000538548	SCV005406208	benign	Hereditary diffuse gastric adenocarcinoma	2024-09-13	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.