ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1142+581A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV003484214 SCV004231750 likely pathogenic Mucopolysaccharidosis type 6 2024-01-14 criteria provided, single submitter research Patient's mRNA analysis and minigene assay demonstrated insertion of 125 bp pseudoexon in the vast majority of mRNA isoforms.

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