ClinVar Miner

Submissions for variant NC_000014.9:g.(?_21317696)_(21320177_?)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 RCV001033427 SCV001196734 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2019-12-23 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 10-11 of the RPGRIP1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). For these reasons, this variant has been classified as Pathogenic.

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