ClinVar Miner

Submissions for variant NC_000004.11:g.(?_103610711)_(103645144_?)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 RCV004580793 SCV005064817 pathogenic Beta-D-mannosidosis 2023-12-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3-7 of the MANBA gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in MANBA are known to be pathogenic (PMID: 9384606, 12468273). This variant has not been reported in the literature in individuals affected with MANBA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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