ClinVar Miner

Submissions for variant NC_000014.8:g.(?_54416750)_(55369403_?)del

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Total submissions: 1
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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.

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