ClinVar Miner

Submissions for variant NC_000023.10:g.(?_148577857)_(148579858_?)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 RCV001031156 SCV001194462 pathogenic Mucopolysaccharidosis, MPS-II 2019-08-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts exons 5-6 in IDS. Other in-frame deletions that disrupt this region have been observed in individuals with IDS-related conditions (PMID: 30639582, 24125893, 9921913), which suggests that this may be a clinically significant region of the protein This variant has been observed in an individual affected with mucopolysaccharidosis type II (PMID: 9921913). This variant is an in-frame deletion of the genomic region encompassing exons 5-6 of the IDS gene. It preserves the integrity of the reading frame.

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