Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817945 | SCV000958532 | pathogenic | Fanconi anemia | 2019-03-08 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 11 of the FANCM gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exon 11 has not been reported in the literature in individuals with FANCM-related conditions. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111). For these reasons, this variant has been classified as Pathogenic. |