ClinVar Miner

Submissions for variant NC_000001.11:g.(?_197084314)_(197478465_?)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 RCV001031330 SCV001194636 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2019-10-08 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CRB1 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. This variant has been observed in an individual affected with CRB1-related conditions (PMID: 17964524). Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). For these reasons, this variant has been classified as Pathogenic.

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