ClinVar Miner

Submissions for variant NC_000002.11:g.(?_219745718)_(219757993_?)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 RCV001951408 SCV002239661 pathogenic Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4 2021-07-28 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the WNT10A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with WNT10A-related disease. Loss-of-function variants in WNT10A are known to be pathogenic (PMID: 19559398, 24043634). For these reasons, this variant has been classified as Pathogenic.

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