ClinVar Miner

Submissions for variant NC_000006.11:g.(?_32802911)_(32808844_?)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 RCV001974830 SCV002208406 uncertain significance MHC class I deficiency 2022-07-12 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with TAP2-related conditions. This variant results in a copy number gain of the genomic region encompassing exon(s) 1-5 of the TAP2 gene. This region includes the initiator codon of the gene. This copy number gain extends 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV004564857 SCV002302247 uncertain significance Proteosome-associated autoinflammatory syndrome 2022-07-12 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with PSMB8-related conditions. This variant results in a copy number gain of the genomic region encompassing exon(s) 6 of the PSMB8 gene. This region includes the termination codon of the gene. This copy number gain extends 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.

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