Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000816782 | SCV000957307 | pathogenic | Neurofibromatosis, type 1 | 2023-12-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg765Alafs*26) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 659735). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV002510986 | SCV002822379 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | NF1: PVS1, PM2 |
Baylor Genetics | RCV003461242 | SCV004190806 | likely pathogenic | Juvenile myelomonocytic leukemia | 2022-05-15 | criteria provided, single submitter | clinical testing |