Submissions for variant NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg)

gnomAD frequency: 0.93112  dbSNP: rs4302331

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153326	SCV000202806	benign	not specified	2017-08-31	criteria provided, single submitter	clinical testing
Invitae	RCV001521989	SCV001731436	benign	Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001527520	SCV001738578	benign	Infantile GM1 gangliosidosis	2021-06-15	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001527521	SCV001738579	benign	Mucopolysaccharidosis, MPS-IV-B	2021-06-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527520	SCV001933790	benign	Infantile GM1 gangliosidosis	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701621	SCV001933791	benign	GM1 gangliosidosis type 2	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701622	SCV001933792	benign	GM1 gangliosidosis type 3	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527521	SCV001933793	benign	Mucopolysaccharidosis, MPS-IV-B	2021-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001175292	SCV001949497	benign	not provided	2019-11-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15714521, 10338095, 17664528, 20981092, 27884173)
GenomeConnect - GM1	RCV001175292	SCV001338913	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 08-10-2017 by Lab or GTR ID 239772. 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000153326	SCV001744670	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000153326	SCV001930667	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000153326	SCV001955802	benign	not specified		no assertion criteria provided	clinical testing