ClinVar Miner

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 RCV001281896 SCV000603839 benign none provided 2020-04-30 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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