Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001056977 | SCV001221444 | pathogenic | Neurofibromatosis, type 1 | 2023-06-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 852381). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 23913538). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1814*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). |
Genome Diagnostics Laboratory, |
RCV001056977 | SCV001478928 | pathogenic | Neurofibromatosis, type 1 | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001291608 | SCV001480169 | pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001291608 | SCV001776753 | pathogenic | not provided | 2021-08-31 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Identified in patients with a personal or family history consistent with pathogenic variants in this gene referred for genetic testing at GeneDx and in published literature (Sabbagh et al., 2013); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23913538, 30556322) |
Genome- |
RCV001056977 | SCV002560125 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003467784 | SCV004190752 | pathogenic | Juvenile myelomonocytic leukemia | 2023-03-31 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001291608 | SCV001953566 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001291608 | SCV001972641 | pathogenic | not provided | no assertion criteria provided | clinical testing |