ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) (rs35289681)

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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 RCV000117143 SCV000228878 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338369 SCV000443193 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.
Illumina Clinical Services Laboratory,Illumina RCV000372110 SCV000443194 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.
Invitae RCV001522631 SCV001732211 benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000675685 SCV001889626 benign not provided 2020-12-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21497194)
Genetic Services Laboratory, University of Chicago RCV000117143 SCV000151305 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 RCV000675685 SCV000801394 benign not provided 2017-05-23 no assertion criteria provided clinical testing

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