Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031702 | SCV001195008 | pathogenic | Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 2020-09-17 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the DIAPH1 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. This variant has not been reported in the literature in individuals with DIAPH1-related conditions. Loss-of-function variants in DIAPH1 are known to be pathogenic (PMID: 24781755, 26463574). For these reasons, this variant has been classified as Pathogenic. |