Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003119813 | SCV003795073 | likely pathogenic | Cohen syndrome | 2022-06-12 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. A similar copy number variant has been observed in individual(s) with Cohen syndrome (PMID: 21330571). This variant is a gross deletion of the genomic region encompassing exon(s) 36 of the VPS13B gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. |