ClinVar Miner

Submissions for variant NC_000023.10:g.(?_148564257)_(148586687_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534923 SCV000628118 pathogenic Mucopolysaccharidosis, MPS-II 2017-05-09 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the IDS gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in IDS are known to be pathogenic. Deletions of the entire IDS gene have been reported in the literature in individuals affected with mucopolysaccharidosis II (PMID: 8829661, 17343270, 22190500, 22492741, 26762690). For these reasons, this variant has been classified as Pathogenic.

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