ClinVar Miner

Submissions for variant NC_000023.10:g.(?_43515590)_(43817891_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003109235 SCV003791967 pathogenic not provided 2022-07-23 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the NDP gene has been identified. Loss-of-function variants in NDP are known to be pathogenic (PMID: 17296899, 20340138). 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 familial exudative vitreoretinopathy and/or Norrie disease (PMID: 22382802, 30452590). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003122219 SCV003788829 pathogenic Brunner syndrome 2022-01-14 flagged submission clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MAOA gene has been identified. Loss-of-function variants in MAOA are known to be pathogenic (PMID: 8211186). 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 MAOA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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