ClinVar Miner

Submissions for variant NC_000017.10:g.(?_78091972)_(78092176_?)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 RCV001384694 SCV001584270 pathogenic Glycogen storage disease, type II 2022-10-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 18 of the GAA 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 Pompe disease (PMID: 7945303, 8558570, 15121988, 17723315, 18607768, 19588081, 24844452, 25752415). For these reasons, this variant has been classified as Pathogenic.

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