Submissions for variant NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala)

gnomAD frequency: 0.89377  dbSNP: rs2959656

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000121334	SCV000203003	benign	not specified	2018-06-22	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000121334	SCV000539614	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae	RCV000860147	SCV001000095	benign	Multiple endocrine neoplasia, type 1	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002227065	SCV002506314	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000860147	SCV004359140	benign	Multiple endocrine neoplasia, type 1	2018-03-23	criteria provided, single submitter	clinical testing
ITMI	RCV000121334	SCV000085508	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000121334	SCV001978091	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000121334	SCV001978533	benign	not specified		no assertion criteria provided	clinical testing