Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000936453 | SCV001082221 | likely benign | Neurofibromatosis, type 1 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319602 | SCV001177836 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-01-21 | criteria provided, single submitter | clinical testing | The c.289-4T>G intronic variant results from a T to G substitution 4 nucleotides upstream from coding exon 4 in the NF1 gene. This nucleotide position is well conserved in available vertebrate species. This alteration is predicted by the BDGP splicing model to weaken the efficiency of the native splice acceptor site, but is not predicted to have a deleterious effect by ESEfinder; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |