Submissions for variant NM_001370259.2(MEN1):c.655-5del

dbSNP: rs772016629

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002164791	SCV002333495	benign	Multiple endocrine neoplasia, type 1	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003222384	SCV003916727	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	MEN1: BP4
Ambry Genetics	RCV004641911	SCV005131109	likely benign	Hereditary cancer-predisposing syndrome	2024-04-29	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.
PreventionGenetics, part of Exact Sciences	RCV003893122	SCV004711768	likely benign	MEN1-related disorder	2024-01-16	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).