ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1233+8T>C

gnomAD frequency: 0.21250  dbSNP: rs13093698
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078700 SCV000110560 benign not specified 2015-10-27 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000078700 SCV000304043 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300510 SCV000443178 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 Laboratory Services, Illumina RCV000353081 SCV000443179 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 RCV001516016 SCV001724216 benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527524 SCV001738582 benign Infantile GM1 gangliosidosis 2021-06-15 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000353081 SCV001738647 benign Mucopolysaccharidosis, MPS-IV-B 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000675680 SCV001942759 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675680 SCV000801388 benign not provided 2015-12-15 no assertion criteria provided clinical testing
GenomeConnect - GM1 RCV000675680 SCV001338915 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 09-25-2014 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000078700 SCV001960045 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000078700 SCV001964866 benign not specified no assertion criteria provided clinical testing

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