ClinVar Miner

Submissions for variant NC_000014.8:g.(?_57270959)_(57274875_?)del

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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 RCV003113822 SCV003796911 pathogenic Anophthalmia-microphthalmia syndrome 2022-06-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with OTX2-related conditions. This variant results in the deletion of exon 1 and part of exon 2 (c.-2701_196delinsTC) of the OTX2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OTX2 are known to be pathogenic (PMID: 15846561, 20486942, 22577225, 24167467).

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