ClinVar Miner

Submissions for variant NC_000012.12:g.(?_87983103)_(88507137_?)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 RCV001033710 SCV001197017 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2019-09-03 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CEP290 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of CEP290 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID:23954617, 27821535, 19764032). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115, 25377065, 28559085). For these reasons, this variant has been classified as Pathogenic.

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