Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474148 | SCV000563872 | pathogenic | Ataxia-telangiectasia syndrome | 2016-05-05 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the ATM gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Gross-deletions in ATM are known to be pathogenic. Deletions involving ATM have been reported in individuals affected with ataxia telangiectasia (PMID: 7792600). For these reasons, this variant has been classified as Pathogenic. |