ClinVar Miner

Submissions for variant NC_000013.10:g.(?_108857585)_(108860894_?)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 RCV001372243 SCV001568860 uncertain significance DNA ligase IV deficiency 2019-02-22 criteria provided, single submitter clinical testing 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 for this variant, and the impact of this deletion on protein function is currently unknown. This variant has not been reported in the literature in individuals with LIG4-related conditions. This variant is a deletion of the genomic region encompassing the last 13 nucleotides of exon 2 and 2205 nucleotides of the 3' intergenic region (c.2723_*1091+2205del) of the LIG4 gene.

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