ClinVar Miner

Submissions for variant NC_000002.11:g.(?_219646906)_(219738567_?)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 RCV001963049 SCV002243967 pathogenic Cholestanol storage disease 2023-07-07 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 CYP27A1-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the CYP27A1 gene has been identified. Loss-of-function variants in CYP27A1 are known to be pathogenic (PMID: 9392430, 10775536, 26937392). 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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