Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315758 | SCV000663203 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-09-03 | criteria provided, single submitter | clinical testing | The p.R2573C variant (also known as c.7717C>T), located in coding exon 52 of the NF1 gene, results from a C to T substitution at nucleotide position 7717. The arginine at codon 2573 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001040889 | SCV001204480 | likely benign | Neurofibromatosis, type 1 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001040889 | SCV002561129 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491121 | SCV002790684 | uncertain significance | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2022-01-07 | criteria provided, single submitter | clinical testing |