ClinVar Miner

Submissions for variant NC_000022.10:g.(?_18561143)_(18613903_?)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 RCV002014749 SCV002240993 pathogenic Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B 2022-10-19 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PEX26 gene has been identified. Loss-of-function variants in PEX26 are known to be pathogenic (PMID: 12851857, 21031596). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with PEX26-related conditions. For these reasons, this variant has been classified as Pathogenic.

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