Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000458823 | SCV000563923 | likely pathogenic | RASopathy | 2016-11-07 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 8-9 of the PTPN11 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. In summary, this variant is a novel deletion that disrupts essential amino acid residues. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |