ClinVar Miner

Submissions for variant NC_000013.10:g.(?_23894756)_(23985378_?)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 RCV002011595 SCV002301203 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-03-08 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 7-8 of the SGCG gene. This region includes the termination 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. This variant has not been reported in the literature in individuals affected with SGCG-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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