Submissions for variant NM_004360.5(CDH1):c.2157T>G (p.Ala719=)

gnomAD frequency: 0.00002  dbSNP: rs762224244

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078945	SCV000557414	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000759012	SCV000722362	likely benign	not provided	2019-12-26	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759012	SCV000888031	likely benign	not provided	2018-04-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000612908	SCV000917140	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001014620	SCV001175349	likely benign	Hereditary cancer-predisposing syndrome	2018-03-26	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	RCV001014620	SCV001350540	likely benign	Hereditary cancer-predisposing syndrome	2019-11-11	criteria provided, single submitter	clinical testing