Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000123048 | SCV000166343 | uncertain significance | PTEN hamartoma tumor syndrome | 2021-07-06 | criteria provided, single submitter | clinical testing | This variant, c.532_534del, results in the deletion of 1 amino acid(s) of the PTEN protein (p.Tyr178del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of PTEN hamartoma tumor syndrome (PMID: 30528446). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV001265677 | SCV001443844 | likely pathogenic | Inborn genetic diseases | 2017-12-06 | criteria provided, single submitter | clinical testing |