ClinVar Miner

Submissions for variant NC_000001.10:g.(?_197398094)_(197398754_?)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 RCV001963075 SCV002245341 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-10-03 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 CRB1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the CRB1 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 CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521).

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