ClinVar Miner

Submissions for variant NC_000003.11:g.(?_48895143)_(49213234_?)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 RCV004580965 SCV005066267 pathogenic Carnitine acylcarnitine translocase deficiency 2023-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC25A20-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the SLC25A20 gene has been identified. Loss-of-function variants in SLC25A20 are known to be pathogenic (PMID: 25614308). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. For these reasons, this variant has been classified as Pathogenic.

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