Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000735266 | SCV000863479 | uncertain significance | PTEN hamartoma tumor syndrome | 2018-04-06 | reviewed by expert panel | curation | PTEN c.*10delT (NC_000010.10:g.89725239delT) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the "PTEN ACMG Specifications Summary" document (assertion method column). PM2: Absent in large sequenced populations (PMID 27535533). |
Gene |
RCV000169817 | SCV000222136 | benign | Hereditary cancer-predisposing syndrome | 2014-02-24 | criteria provided, single submitter | clinical testing | The variant is found in PTEN panel(s). |
Counsyl | RCV000411453 | SCV000488168 | uncertain significance | Cowden syndrome 1 | 2016-01-13 | criteria provided, single submitter | clinical testing | |
Color | RCV000169817 | SCV000686267 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-17 | criteria provided, single submitter | clinical testing |