ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031254 SCV001194560 uncertain significance Glucose-6-phosphate transport defect 2019-12-13 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the SLC37A4 gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with SLC37A4-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Invitae RCV001304384 SCV001493661 uncertain significance Inflammatory bowel disease 28 2020-03-26 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the IL10RA gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with IL10RA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Invitae RCV001313154 SCV001503633 uncertain significance Combined immunodeficiency due to CD3gamma deficiency 2020-03-26 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the CD3G gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with CD3G-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Invitae RCV001322413 SCV001513281 uncertain significance Immunodeficiency 19 2020-03-26 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the CD3D gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with CD3D-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Invitae RCV001338286 SCV001531939 uncertain significance Immunodeficiency 18 2020-03-26 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the CD3E gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with CD3E-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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