ClinVar Miner

Submissions for variant NC_000017.11:g.(?_8228170)_(8382320_?)dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033786 SCV001197093 uncertain significance Dyskeratosis congenita 2019-04-08 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the CTC1 gene. 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 with CTC1-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.
Invitae RCV001343466 SCV001537449 uncertain significance Diamond-Blackfan anemia 2019-03-29 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the RPL26 gene. 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 with RPL26-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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