ClinVar Miner

Submissions for variant NC_000014.8:g.(?_21756136)_(22005055_?)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 RCV001388561 SCV001589587 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-03-18 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 RPGRIP1-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the RPGRIP1 gene has been identified. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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