ClinVar Miner

Submissions for variant NC_000008.10:g.(?_100396426)_(100403942_?)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 RCV001382980 SCV001581961 pathogenic Cohen syndrome 2021-08-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 20-21 of the VPS13B 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 Cohen syndrome (PMID: 15141358). For these reasons, this variant has been classified as Pathogenic.

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