ClinVar Miner

Submissions for variant NC_000023.10:g.(?_148564277)_(148586667_?)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 RCV003122171 SCV003790855 pathogenic Mucopolysaccharidosis, MPS-II 2022-09-24 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. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with mucopolysaccharidosis type II (PMID: 9921913). For these reasons, this variant has been classified as Pathogenic.

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