ClinVar Miner

Submissions for variant NC_000013.10:g.(?_48517506)_(49070513_?)dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003107764 SCV003791859 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the ITM2B gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with ITM2B-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003107763 SCV003792524 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2021-12-29 flagged submission clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the SUCLA2 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with SUCLA2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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