Submissions for variant NM_004360.5(CDH1):c.870C>T (p.Asp290=)

gnomAD frequency: 0.00001  dbSNP: rs755215407

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164477	SCV000215122	likely benign	Hereditary cancer-predisposing syndrome	2015-01-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV000435023	SCV000512513	benign	not specified	2015-09-14	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.
Invitae	RCV000464031	SCV000557376	likely benign	Hereditary diffuse gastric adenocarcinoma	2023-12-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000164477	SCV001358487	likely benign	Hereditary cancer-predisposing syndrome	2018-10-19	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000435023	SCV002760854	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477609	SCV004220848	benign	not provided	2023-01-02	criteria provided, single submitter	clinical testing