Submissions for variant NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val)

gnomAD frequency: 0.30800  dbSNP: rs1054486

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079080	SCV000110949	benign	not specified	2015-04-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079080	SCV000304696	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000368270	SCV000410805	benign	Deficiency of alpha-mannosidase	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000079080	SCV000539583	benign	not specified	2016-03-28	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, ClinVar assertions are B/LB
GeneDx	RCV000675487	SCV000986639	benign	not provided	2018-06-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000368270	SCV001720287	benign	Deficiency of alpha-mannosidase	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000368270	SCV001738069	benign	Deficiency of alpha-mannosidase	2021-06-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079080	SCV000151816	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000368270	SCV000733848	benign	Deficiency of alpha-mannosidase		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675487	SCV000801177	benign	not provided	2015-10-23	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000368270	SCV001454361	benign	Deficiency of alpha-mannosidase	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079080	SCV001919426	benign	not specified		no assertion criteria provided	clinical testing