ClinVar Miner

Submissions for variant NC_000016.10:g.(?_4797440)_(4802591_?)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 RCV004581607 SCV005062186 pathogenic Amelocerebrohypohidrotic syndrome 2024-01-19 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the ROGDI gene has been identified. Loss-of-function variants in ROGDI are known to be pathogenic (PMID: 22424600, 23086778). 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 ROGDI-related conditions. For these reasons, this variant has been classified as Pathogenic.

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