ClinVar Miner

Submissions for variant NC_000023.11:g.(?_100402504)_(100402871_?)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 RCV001032501 SCV001195808 pathogenic Developmental and epileptic encephalopathy, 9 2023-07-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the PCDH19 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 PCDH19 are known to be pathogenic (PMID: 21053371). This variant has not been reported in the literature in individuals affected with PCDH19-related conditions. For these reasons, this variant has been classified as Pathogenic.

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