Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707794 | SCV000836904 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-10-30 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 10 of the PMS2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with Lynch syndrome and constitutional mismatch repair deficiency syndrome (PMID: 16472587, 18602922, 22577899, 23837913, 26318770). For these reasons, this variant has been classified as Pathogenic. |