ClinVar Miner

Submissions for variant NC_000006.11:g.(?_129419305)_(129475838_?)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 RCV000798808 SCV000938441 uncertain significance LAMA2-related muscular dystrophy 2019-06-18 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 4-8 of the LAMA2 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant 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 LAMA2-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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