ClinVar Miner

Submissions for variant NC_000016.9:g.(?_87636753)_(90109753_?)dup

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003119313 SCV003790632 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-04-04 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the CYBA 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 CYBA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV003109228 SCV003793601 uncertain significance Primary ciliary dyskinesia 33 2022-04-04 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the GAS8 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 GAS8-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 RCV004579589 SCV005066852 uncertain significance Fanconi anemia 2023-12-07 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the FANCA 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 FANCA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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