ClinVar Miner

Submissions for variant NC_000011.9:g.(?_65318577)_(65321871_?)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 RCV004580201 SCV005064204 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-01-17 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-11 of the LTBP3 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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