ClinVar Miner

Submissions for variant NC_000004.11:g.(?_128804417)_(129131208_?)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 RCV001305226 SCV001494549 uncertain significance not provided 2017-09-16 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the PLK4 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication 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 PLK4-related disease. 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 RCV000708382 SCV000837492 uncertain significance Neuronal ceroid lipofuscinosis 7 2017-11-29 flagged submission clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the MFSD8 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication 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 MFSD8-related disease. 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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