ClinVar Miner

Submissions for variant NC_000002.11:g.(?_210737462)_(210745838_?)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 RCV003122876 SCV003795737 uncertain significance not provided 2022-06-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with UNC80-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. This variant is a gross deletion of the genomic region encompassing exon(s) 23-25 of the UNC80 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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