ClinVar Miner

Submissions for variant NC_000006.11:g.(?_18121650)_(18149358_?)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 RCV001982962 SCV002246609 pathogenic Lafora disease 2023-08-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with Lafora disease (PMID: 17389303, 23317923). A gross deletion of the genomic region encompassing the full coding sequence of the NHLRC1 gene has been identified. Loss-of-function variants in NHLRC1 are known to be pathogenic (PMID: 15781812). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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