ClinVar Miner

Submissions for variant NC_000023.10:g.(?_148571835)_(148582578_?)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 RCV001380205 SCV001578164 pathogenic Mucopolysaccharidosis, MPS-II 2021-08-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4-7 of the IDS gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with mucopolysaccharidosis type II (PMID: 8807335, 30639582). The region of the IDS gene that includes exon(s) 5-6 has been determined to be clinically significant (PMID: 9921913; Invitae). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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