Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002197172 | SCV002349026 | likely benign | Peutz-Jeghers syndrome | 2022-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004017894 | SCV004849312 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-10-07 | criteria provided, single submitter | clinical testing | The c.290+18G>T intronic alteration consists of a G to T substitution 8 nucleotides after coding exon 1 in the STK11 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |