ClinVar Miner

Submissions for variant NC_000001.11:g.(?_45500323)_(45509225_?)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 RCV001033744 SCV001197051 pathogenic Cobalamin C disease 2022-09-12 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MMACHC gene has been identified. Loss-of-function variants in MMACHC are known to be pathogenic (PMID: 16311595). 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 MMACHC-related conditions. For these reasons, this variant has been classified as Pathogenic.

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