Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031514 | SCV001194820 | pathogenic | Bloom syndrome | 2022-10-07 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 11-12 of the BLM gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). A similar copy number variant has been observed in individual(s) with Bloom syndrome (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic. |