ClinVar Miner

Submissions for variant NC_000012.11:g.(?_88479796)_(88514963_?)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 RCV001949644 SCV002241049 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2021-02-05 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 with CEP290-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 14-34 of the CEP290 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115).

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