Submissions for variant NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)

gnomAD frequency: 0.00074  dbSNP: rs181795958

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117579	SCV000151801	uncertain significance	not provided	2013-07-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313904	SCV000848262	benign	Inborn genetic diseases	2016-11-16	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics	RCV000764824	SCV000895975	uncertain significance	Rafiq syndrome	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000764824	SCV001031595	likely benign	Rafiq syndrome	2023-10-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000764824	SCV001327980	likely benign	Rafiq syndrome	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
PreventionGenetics, part of Exact Sciences	RCV003952574	SCV004775216	likely benign	MAN1B1-related condition	2019-03-05	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000117579	SCV001797364	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117579	SCV001970291	uncertain significance	not provided		no assertion criteria provided	clinical testing