ClinVar Miner

Submissions for variant NC_000016.10:g.(?_100352)_(100529_?)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 RCV000653315 SCV000775194 pathogenic Epilepsy, familial focal, with variable foci 3 2022-10-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the NPRL3 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 individuals with clinical features of familial focal epilepsy with variable foci (FFEVF) (Invitae). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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