ClinVar Miner

Submissions for variant NC_000008.11:g.(?_99096292)_(99193077_?)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 RCV000707836 SCV000836946 pathogenic Cohen syndrome 2018-05-17 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 4-33 of the VPS13B gene. It preserves the integrity of the reading frame. Deletion of exons 4-33 has not been reported in the literature in individuals with VPS13B-related disease. Smaller in-frame deletions encompassed by this variant (deletion of exons 20-21 or exons 18-21) have been reported in individuals affected with Cohen syndrome (PMID: 15141358, 16648375). For these reasons, this variant has been classified as Pathogenic.

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