ClinVar Miner

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

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Total submissions: 10
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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 RCV001281896 SCV000603839 benign none provided 2020-04-30 criteria provided, single submitter clinical testing
GeneDx RCV001573681 SCV000730469 benign not provided 2019-03-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16941474, 12644936)
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.
Invitae RCV001511461 SCV001718706 benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-12-04 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000078701 SCV000212125 likely benign not specified 2015-03-02 no assertion criteria provided research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573681 SCV001799918 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000078701 SCV001932707 benign not specified no assertion criteria provided clinical testing

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