ClinVar Miner

Submissions for variant NC_000011.9:g.(?_117856768)_(118972385_?)del

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001031688 SCV001194994 pathogenic Immunodeficiency 19 2024-01-08 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CD3D gene has been identified. Loss-of-function variants in CD3D are known to be pathogenic (PMID: 14602880, 15546002). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with CD3D-related conditions. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001382626 SCV001581469 pathogenic Combined immunodeficiency due to CD3gamma deficiency 2024-01-08 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CD3G gene has been identified. Loss-of-function variants in CD3G are known to be pathogenic (PMID: 1635567, 17277165, 24910257). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with CD3G-related conditions. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001386823 SCV001587182 pathogenic Inflammatory bowel disease 28 2024-01-08 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the IL10RA gene has been identified. Loss-of-function variants in IL10RA are known to be pathogenic (PMID: 24216686, 25373860, 26822028). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with IL10RA-related conditions. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001389243 SCV001590519 pathogenic Immunodeficiency 18 2024-01-08 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CD3E gene has been identified. Loss-of-function variants in CD3E are known to be pathogenic (PMID: 8490660, 15546002). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with CD3E-related conditions. For these reasons, this variant has been classified as Pathogenic.

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