ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.300-4092_300-2318del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV003238164 SCV003936069 pathogenic Hurler syndrome 2023-02-10 criteria provided, single submitter clinical testing A homozygous deletion of exon 9 to exon 14 of the IDUA gene was detected (chr4:996520_998294del). This variant has not been reported in the 1000 genomes and gnomAD database. Large deletion encompassing these exons have previously been reported as pathogenic in ClinVar CNV. In summary, the CNV meets our criteria to be classifed as pathogenic

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