Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004560648 | SCV005048158 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2020-10-07 | criteria provided, single submitter | clinical testing | The c.480-65G>A intronic alteration consists of a G to A substitution 65 nucleotides before coding exon 5 in the NF1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |