Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002207571 | SCV002365225 | likely benign | Peutz-Jeghers syndrome | 2021-06-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004017897 | SCV004849311 | uncertain significance | Hereditary cancer-predisposing syndrome | 2014-10-20 | criteria provided, single submitter | clinical testing | The c.1109-16G>A intronic alteration consists of a G to A substitution 16 nucleotides before coding exon 9 in the STK11 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |