ClinVar Miner

Submissions for variant NC_000023.10:g.(?_135067662)_(136652229_?)del

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956452 SCV002238488 pathogenic Heterotaxy, visceral, 1, X-linked 2023-04-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with ZIC3-related conditions (PMID: 21465648). A gross deletion of the genomic region encompassing the full coding sequence of the ZIC3 gene has been identified. Loss-of-function variants in ZIC3 are known to be pathogenic (PMID: 24123890). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.
Labcorp Genetics (formerly Invitae), Labcorp RCV001956451 SCV002243681 pathogenic Hyper-IgM syndrome type 1 2022-06-27 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CD40LG gene has been identified. Loss-of-function variants in CD40LG are known to be pathogenic (PMID: 15319456). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with hyper IgM syndrome (PMID: 15358621, 16019685). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003107929 SCV003791483 pathogenic Christianson syndrome 2022-08-28 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SLC9A6 gene has been identified. Loss-of-function variants in SLC9A6 are known to be pathogenic (PMID: 18342287). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with SLC9A6-related conditions. For these reasons, this variant has been classified as Pathogenic.

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