ClinVar Miner

Submissions for variant NC_000023.11:g.71111644G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002681246 SCV002993107 uncertain significance X-linked severe combined immunodeficiency 2022-04-25 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the IL2RG gene. It does not change the encoded amino acid sequence of the IL2RG protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with IL2RG-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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