ClinVar Miner

Submissions for variant NC_000005.9:g.(?_78076220)_(78281071_?)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 RCV004578917 SCV005067655 pathogenic Mucopolysaccharidosis type 6 2023-02-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ARSB-related conditions. For these reasons, this variant has been classified as Pathogenic. A gross deletion of the genomic region encompassing the full coding sequence of the ARSB gene has been identified. Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). 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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