ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.-91_3071dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810884 SCV000951121 uncertain significance Bethlem myopathy 1 2018-12-11 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the COL6A2 gene. 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. This variant has not been reported in the literature in individuals with COL6A2-related conditions. 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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