ClinVar Miner

Submissions for variant NC_000006.11:g.(?_135606783)_(138202456_?)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 RCV004578717 SCV005067455 pathogenic Peroxisome biogenesis disorder 9B 2023-05-22 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 PEX7-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the PEX7 gene has been identified. Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 12522768, 20301447). 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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