ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.2978-16_2995dup

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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 RCV003755352 SCV004403366 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-10-05 criteria provided, single submitter clinical testing This sequence change falls in intron 21 of the LTBP3 gene. It does not directly change the encoded amino acid sequence of the LTBP3 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing 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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