ClinVar Miner

Submissions for variant NC_000016.10:g.(?_78386840)_(78432772_?)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 RCV000708455 SCV000837565 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2022-09-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6-8 of the WWOX gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with autosomal recessive early infantile epileptic encephalopathy (PMID: 25411445, 30356099). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

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