ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.848-7CA[2]

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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 RCV003588268 SCV004285872 uncertain significance Immunodeficiency 39 2024-01-04 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the IRF7 gene. It does not directly change the encoded amino acid sequence of the IRF7 protein. This variant is present in population databases (rs747546243, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with IRF7-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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