Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003494696 | SCV004298194 | pathogenic | Neurofibromatosis, type 1 | 2023-08-30 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10712197, 20844836, 23668869, 23913538). This sequence change affects the initiator methionine of the NF1 mRNA. The next in-frame methionine is located at codon 68. |
NHS Central & South Genomic Laboratory Hub | RCV003494696 | SCV005393945 | likely pathogenic | Neurofibromatosis, type 1 | 2024-11-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005014780 | SCV005644919 | likely pathogenic | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2024-04-01 | criteria provided, single submitter | clinical testing |