Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001946570 | SCV002232761 | pathogenic | Microphthalmia with brain and digit anomalies; Orofacial cleft 11 | 2021-02-15 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the BMP4 gene has been identified. Loss-of-function variants in BMP4 are known to be pathogenic (PMID: 18252212, 21340693). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with microphthalmia (PMID: 21340693). For these reasons, this variant has been classified as Pathogenic. |