ClinVar Miner

Submissions for variant NC_000014.8:g.(?_21793972)_(21794928_?)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 RCV004578101 SCV005065569 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-10-24 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. This variant is a gross deletion of the genomic region encompassing exon(s) 16 of the RPGRIP1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016).

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