ClinVar Miner

Submissions for variant NC_000010.10:g.(?_14981799)_(14981878_?)del

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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 RCV003122342 SCV003790926 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2022-07-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the DCLRE1C gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with DCLRE1C-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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