Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clingen PTEN Variant Curation Expert Panel, |
RCV001078165 | SCV001244233 | pathogenic | PTEN hamartoma tumor syndrome | 2019-11-22 | reviewed by expert panel | curation | PTEN c.210-2_211del meets criteria to be classified as pathogenic 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). PVS1: Null variant predicted to result in nonsense-mediated decay or causing truncation/frameshift at or 5' to c.1121 (NM_000314.4). PM2: Absent in large sequenced populations (PMID 27535533). PS4_P: Proband(s) with phenotype specificity score of 1-1.5 (PMID 28677221). |
Cancer Genomic Medicine Translational Research Lab, |
RCV000516050 | SCV000579227 | pathogenic | Cowden syndrome 1 | 2017-05-26 | no assertion criteria provided | research |