ClinVar Miner

Submissions for variant NC_000018.9:g.(?_43467696)_(43467892_?)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 RCV004579798 SCV005063796 pathogenic Vici syndrome 2023-03-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 29 of the EPG5 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in EPG5 are known to be pathogenic (PMID: 23222957, 23674064).

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