ClinVar Miner

Submissions for variant NC_000002.11:g.(?_220288441)_(220288541_?)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 RCV001877605 SCV002140964 uncertain significance Desmin-related myofibrillar myopathy 2021-06-14 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the DES gene. It does not directly change the encoded amino acid sequence of the DES protein. This variant has not been reported in the literature in individuals with DES-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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