Submissions for variant NM_004360.5(CDH1):c.49-19T>C

dbSNP: rs1555509751

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000582521	SCV000689549	likely benign	Hereditary cancer-predisposing syndrome	2016-05-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002061800	SCV002363923	likely benign	Hereditary diffuse gastric adenocarcinoma	2023-10-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000582521	SCV004848953	uncertain significance	Hereditary cancer-predisposing syndrome	2015-01-14	criteria provided, single submitter	clinical testing	The c.49-19T>C intronic alteration consists of a T to C substitution 19 nucleotides before coding exon 2 in the CDH1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Human Genetics, Hannover Medical School	RCV002061800	SCV005050122	uncertain significance	Hereditary diffuse gastric adenocarcinoma	2024-06-10	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV002061800	SCV005406538	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-09-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.