ClinVar Miner

Submissions for variant NC_000007.13:g.(?_157151267)_(157160197_?)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 RCV001990019 SCV002236840 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2022-09-30 criteria provided, single submitter clinical testing 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. A similar copy number variant has been observed in at least one individual who was not affected with DNAJB6-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with DNAJB6-related conditions. This variant results in a copy number gain of the genomic region encompassing exon(s) 2-5 of the DNAJB6 gene. This region includes the initiator codon of the gene. This copy number gain extends 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.

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