Submissions for variant NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)

gnomAD frequency: 0.00175  dbSNP: rs148108322

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000675472	SCV000110947	uncertain significance	not provided	2013-05-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079772	SCV001121589	benign	Deficiency of alpha-mannosidase	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001079772	SCV001284284	benign	Deficiency of alpha-mannosidase	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab	RCV001079772	SCV001737260	benign	Deficiency of alpha-mannosidase	2021-05-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001705728	SCV002050904	benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000675472	SCV002546067	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	MAN2B1: BP4, BP7, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000675472	SCV000801161	likely benign	not provided	2017-04-12	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001079772	SCV001453906	benign	Deficiency of alpha-mannosidase	2019-12-30	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001705728	SCV001918279	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000675472	SCV001927598	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000675472	SCV001976086	likely benign	not provided		no assertion criteria provided	clinical testing