ClinVar Miner

Submissions for variant NC_000008.10:g.(?_100711743)_(100712170_?)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 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.

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