Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078700 | SCV000110560 | benign | not specified | 2015-10-27 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000078700 | SCV000304043 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
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, |
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 | |
Gene |
RCV000675680 | SCV001942759 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000675680 | SCV000801388 | benign | not provided | 2015-12-15 | no assertion criteria provided | clinical testing | |
Genome |
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, |
RCV000078700 | SCV001960045 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000078700 | SCV001964866 | benign | not specified | no assertion criteria provided | clinical testing |