ClinVar Miner

Submissions for variant NC_000008.10:g.(?_100493817)_(100588022_?)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 RCV001958824 SCV002241059 pathogenic Cohen syndrome 2021-03-26 criteria provided, single submitter clinical testing The region of the VPS13B gene that includes exon(s) 26-32 has been determined to be clinically significant (PMID: 29634382). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. This variant has not been reported in the literature in individuals with VPS13B-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 25-32 of the VPS13B gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic.

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