ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.689+3899T>C (rs1264291601)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543839 SCV000638672 uncertain significance Myofibrillar myopathy, ZASP-related 2017-03-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the LDB3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a LDB3-related disease. While this particular variant has not been reported in the literature, truncating variants in LDB3 are not necessarily pathogenic, and the clinical significance of this variant is uncertain at this time.

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