ClinVar Miner

Submissions for variant NC_000004.11:g.(?_52899577)_(52899826_?)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 RCV000642676 SCV000764363 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2017-11-28 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 2 of the SGCB gene. While the exact position of the duplicated exon cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679). This duplication would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with SGCB-related disease. 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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