Submissions for variant NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) (rs34421970)

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Total submissions: 7

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000078701	SCV000110561	benign	not specified	2015-10-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000078701	SCV000603839	benign	not specified	2019-06-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000078701	SCV000730469	likely benign	not specified	2017-03-27	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.
Counsyl	RCV000671886	SCV000796916	likely benign	GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis	2018-01-04	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001150122	SCV001311135	likely benign	GM1 gangliosidosis	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina	RCV001150123	SCV001311136	likely benign	Mucopolysaccharidosis, MPS-IV-B	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Blueprint Genetics	RCV000078701	SCV000212125	likely benign	not specified	2015-03-02	no assertion criteria provided	research

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