ClinVar Miner

Submissions for variant NC_000010.10:g.(?_14987084)_(14996009_?)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 RCV004580454 SCV005065738 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-29 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-3 of the DCLRE1C gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to 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 individuals with severe combined immunodeficiency (SCID) or Omenn syndrome (OS) (PMID: 19912631). For these reasons, this variant has been classified as Pathogenic.

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