ClinVar Miner

Submissions for variant NM_007078.2(LDB3):c.-23-?_93+?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 RCV000239922 SCV000299107 uncertain significance Myofibrillar myopathy 4 2016-01-01 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1 to 4 of the LDB3 gene, which includes the initiator codon. The 3' boundary is likely confined to the intronic region between exons 4 and 5; the 5' end of this event is unknown as it extends beyond the assayed region for this gene. This subgenic duplication is not present in population databases and has not been reported in the literature in individuals with an LDB3-related disease. In summary, this is a novel duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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