ClinVar Miner

Submissions for variant NC_000014.8:g.(?_57268453)_(57272174_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003113821 SCV003796910 pathogenic Anophthalmia-microphthalmia syndrome 2023-04-08 criteria provided, single submitter clinical testing A similar copy number variant has been observed in individuals with oculo-auriculo-vertebral spectrum and/or pituitary hormone deficiency (PMID: 32796691, 36368868). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. A copy number gain of the genomic region encompassing the full coding sequence of the OTX2 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

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