ClinVar Miner

Submissions for variant NC_000010.11:g.(?_86668564)_(86700053_?)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 RCV000475683 SCV000563855 uncertain significance Myofibrillar myopathy 4 2016-11-29 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the LDB3 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with any LDB3-related condition. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in LDB3 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance.

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