Submissions for variant NM_004360.5(CDH1):c.1937-4C>G

dbSNP: rs1057523153

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000430775	SCV000530891	likely benign	not specified	2016-08-11	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.
Ambry Genetics	RCV000562265	SCV000666288	likely benign	Hereditary cancer-predisposing syndrome	2022-11-30	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	RCV000562265	SCV001355696	uncertain significance	Hereditary cancer-predisposing syndrome	2019-01-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001503433	SCV001708288	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-12-23	criteria provided, single submitter	clinical testing