Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002354941 | SCV001187319 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-08-22 | criteria provided, single submitter | clinical testing | The c.6365-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 42 in the NF1 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on the splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001451717 | SCV001655358 | likely benign | Neurofibromatosis, type 1 | 2023-02-13 | criteria provided, single submitter | clinical testing |