ClinVar Miner

Submissions for variant NC_000002.11:g.(?_201943606)_(204824322_?)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 RCV003122553 SCV003792755 uncertain significance Immunodeficiency, common variable, 1 2022-08-19 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 ICOS-related conditions. A copy number gain of the genomic region encompassing the full coding sequence of the ICOS 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003105677 SCV003793389 uncertain significance Autoimmune lymphoproliferative syndrome type 2B 2022-08-19 criteria provided, single submitter clinical testing A copy number gain of the genomic region encompassing the full coding sequence of the CASP8 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 CASP8-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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