Submissions for variant NM_014805.3(EPM2AIP1):c.-202G>C

gnomAD frequency: 0.00539  dbSNP: rs35032294

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000075057	SCV000106608	likely benign	Lynch syndrome	2013-09-05	reviewed by expert panel	research	No effect on transcription & MAF 0.01-1%
Ambry Genetics	RCV000162413	SCV000212752	benign	Hereditary cancer-predisposing syndrome	2014-11-18	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Mendelics	RCV000987142	SCV001136363	likely benign	Colorectal cancer, hereditary nonpolyposis, type 2	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001518391	SCV001727069	benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002292467	SCV002585967	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	EPM2AIP1: BS2; MLH1: BS2