Submissions for variant NM_000404.4(GLB1):c.34T>C (p.Leu12=)

gnomAD frequency: 0.88431  dbSNP: rs7614776

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078712	SCV000110572	benign	not specified	2017-08-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078712	SCV000304048	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000392270	SCV000443197	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	RCV000302471	SCV000443198	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001518401	SCV001727081	benign	Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001527572	SCV001738664	benign	Infantile GM1 gangliosidosis	2021-06-15	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000392270	SCV001738665	benign	Mucopolysaccharidosis, MPS-IV-B	2021-06-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527572	SCV001933794	benign	Infantile GM1 gangliosidosis	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701492	SCV001933795	benign	GM1 gangliosidosis type 2	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701493	SCV001933797	benign	GM1 gangliosidosis type 3	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000392270	SCV001933798	benign	Mucopolysaccharidosis, MPS-IV-B	2021-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000675687	SCV001942756	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675687	SCV005245089	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000078712	SCV000151306	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV000675687	SCV000801396	benign	not provided	2015-10-20	no assertion criteria provided	clinical testing
GenomeConnect - GM1	RCV000302471	SCV001338912	not provided	GM1 gangliosidosis		no assertion provided	phenotyping only	Variant interpreted as Benign and reported, most recently, on 08-10-2017 by lab or GTR ID Prevention Genetics. GenomeConnect - GM1 assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000078712	SCV001744866	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078712	SCV001958204	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078712	SCV001971224	benign	not specified		no assertion criteria provided	clinical testing