ClinVar Miner

Submissions for variant NC_000014.8:g.(?_21785835)_(21796806_?)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 RCV003109692 SCV003791685 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-08 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 10-18 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). A similar copy number variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 32865313). For these reasons, this variant has been classified as Pathogenic.

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