Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551540 | SCV000640980 | pathogenic | Exostoses, multiple, type 2 | 2022-06-21 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the EXT2 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 individual(s) with multiple osteochondromas (PMID: 18165274, 19810120). For these reasons, this variant has been classified as Pathogenic. |