Submissions for variant NM_000404.4(GLB1):c.458-11T>C

gnomAD frequency: 0.10591  dbSNP: rs34204221

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078716	SCV000110576	benign	not specified	2013-02-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078716	SCV000304049	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000278028	SCV000443189	benign	Mucopolysaccharidosis, MPS-IV-B	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.
Illumina Laboratory Services, Illumina	RCV000330647	SCV000443190	benign	GM1 gangliosidosis	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.
GeneDx	RCV000078716	SCV000513156	benign	not specified	2016-09-20	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	RCV001518642	SCV001727376	benign	Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001527569	SCV001738660	benign	Infantile GM1 gangliosidosis	2021-06-15	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000278028	SCV001738661	benign	Mucopolysaccharidosis, MPS-IV-B	2021-06-15	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675684	SCV000801393	benign	not provided	2015-12-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078716	SCV001959523	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078716	SCV001964748	benign	not specified		no assertion criteria provided	clinical testing