ClinVar Miner

Submissions for variant NC_000008.10:g.(?_100533117)_(100568891_?)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 RCV001390754 SCV001592585 pathogenic Cohen syndrome 2020-07-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). This variant has not been reported in the literature in individuals with VPS13B-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon 30-31 of the VPS13B gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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