ClinVar Miner

Submissions for variant NC_000004.11:g.(?_2822345)_(3495228_?)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 RCV004580768 SCV005064792 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2023-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DOK7-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the DOK7 gene has been identified. Loss-of-function variants in DOK7 are known to be pathogenic (PMID: 16794080, 16917026, 18626973, 19261599). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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