Submissions for variant NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)

gnomAD frequency: 0.00125  dbSNP: rs146417316

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193471	SCV000247890	benign	not specified	2019-03-13	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726027	SCV000341326	uncertain significance	not provided	2016-04-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314830	SCV000848810	likely benign	Inborn genetic diseases	2017-01-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Invitae	RCV001089236	SCV001113815	benign	Rafiq syndrome	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001089236	SCV001330395	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000726027	SCV004163989	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	MAN1B1: BP4