ClinVar Miner

Submissions for variant NC_000006.11:g.(?_109787054)_(109803229_?)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 RCV004578671 SCV005066173 pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2023-03-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ZBTB24-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the ZBTB24 gene has been identified. Loss-of-function variants in ZBTB24 are known to be pathogenic (PMID: 21596365). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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