Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000437881 | SCV000523286 | likely benign | not specified | 2016-01-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000580467 | SCV000686697 | likely benign | Hereditary cancer-predisposing syndrome | 2016-07-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002062567 | SCV002480628 | likely benign | Peutz-Jeghers syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000580467 | SCV004849315 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-03-04 | criteria provided, single submitter | clinical testing | The c.863-17C>T intronic alteration consists of a C to T substitution 17 nucleotides before coding exon 7 in the STK11 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |