Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000693418 | SCV000821286 | likely benign | Neurofibromatosis, type 1 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319086 | SCV001185329 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-10-30 | criteria provided, single submitter | clinical testing | The p.L1679F variant (also known as c.5035C>T), located in coding exon 36 of the NF1 gene, results from a C to T substitution at nucleotide position 5035. The leucine at codon 1679 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome- |
RCV000693418 | SCV002560507 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485661 | SCV002787751 | uncertain significance | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2021-12-01 | criteria provided, single submitter | clinical testing |