ClinVar Miner

Submissions for variant NC_000001.10:g.(?_243303219)_(245027609_?)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 RCV002035611 SCV002302128 uncertain significance not provided 2022-09-30 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the COX20 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 COX20-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 RCV002010254 SCV002286057 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-12-02 flagged submission clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the SDCCAG8 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 SDCCAG8-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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