ClinVar Miner

Submissions for variant NC_000002.11:g.(?_238274642)_(238275889_?)del

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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 RCV004583696 SCV005063321 uncertain significance Bethlem myopathy 1A 2023-12-21 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 11 and part of exon 12 (c.4941_5537del) of the COL6A3 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with clinical features of COL6A3-related conditions (Invitae). 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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