ClinVar Miner

Submissions for variant NC_000006.11:g.(?_10556657)_(10626840_?)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 RCV003107423 SCV003793605 pathogenic Cataract 13 with adult I phenotype 2022-06-09 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GCNT2 gene has been identified. Loss-of-function variants in GCNT2 are known to be pathogenic (PMID: 21761136). 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 adult i phenotype (PMID: 11739194). For these reasons, this variant has been classified as Pathogenic.

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