ClinVar Miner

Submissions for variant NC_000010.10:g.(?_14976359)_(14976794_?)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 RCV004580461 SCV005065745 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2023-10-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7-8 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). A similar copy number variant has been observed in individual(s) with severe combined immunodeficiency (PMID: 19953608). For these reasons, this variant has been classified as Pathogenic.

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