ClinVar Miner

Submissions for variant NC_000007.14:g.(?_94395012)_(94656118_?)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 RCV000639702 SCV000761283 pathogenic Myoclonic dystonia 11 2021-09-02 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SGCE gene has been identified. Loss-of-function variants in SGCE are known to be pathogenic (PMID: 12821748, 15389977, 17853490, 24297365). 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 myoclonus-dystonia (PMID: 23677909). For these reasons, this variant has been classified as Pathogenic.

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