Submissions for variant NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)

gnomAD frequency: 0.00237  dbSNP: rs117843968

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178787	SCV000230942	likely benign	not specified	2015-03-30	criteria provided, single submitter	clinical testing
Invitae	RCV000528570	SCV000627794	likely benign	Deficiency of alpha-mannosidase	2024-01-31	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000528570	SCV000782744	uncertain significance	Deficiency of alpha-mannosidase	2017-09-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000528570	SCV001285593	uncertain significance	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV001311166	SCV001501235	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	MAN2B1: BS2
Genome-Nilou Lab	RCV000528570	SCV002014550	likely benign	Deficiency of alpha-mannosidase	2021-09-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927668	SCV004746384	likely benign	MAN2B1-related disorder	2021-03-12	criteria provided, single submitter	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).
Natera, Inc.	RCV000528570	SCV001455944	benign	Deficiency of alpha-mannosidase	2019-12-27	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001311166	SCV002036619	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001311166	SCV002038445	likely benign	not provided		no assertion criteria provided	clinical testing