ClinVar Miner

Submissions for variant NC_000010.10:g.(?_14964960)_(14966845_?)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 RCV004580452 SCV005065736 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2023-08-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DCLRE1C-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is a gross deletion of the genomic region encompassing exon(s) 12 of the DCLRE1C gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in DCLRE1C are known to be pathogenic (PMID: 21664875, 26123418).

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