ClinVar Miner

Submissions for variant NC_000007.13:g.(?_157151267)_(157208792_?)dup

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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 RCV001889719 SCV002143615 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2023-06-20 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the DNAJB6 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with DNAJB6-related conditions.

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