ClinVar Miner

Submissions for variant NC_000002.11:g.(?_61244895)_(61275905_?)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 RCV004583676 SCV005063301 pathogenic Peroxisome biogenesis disorder 11A (Zellweger) 2023-10-08 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PEX13 gene has been identified. Loss-of-function variants in PEX13 are known to be pathogenic (PMID: 10332040, 21031596). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of PEX13 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 19449432). For these reasons, this variant has been classified as Pathogenic.

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