ClinVar Miner

Variants in gene CD3G

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
5 8 39 26 6 79

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Combined immunodeficiency due to CD3gamma deficiency 5 6 35 25 6 72
not provided 0 0 4 2 3 9
CD3G-related disorder 0 0 1 1 0 2
Immunodeficiency due to defect in CD3-gamma 0 0 2 0 0 2
Severe combined immunodeficiency disease 0 2 0 0 0 2
not specified 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 4 4 17 25 4 54
Illumina Laboratory Services, Illumina 0 0 21 0 2 23
Breakthrough Genomics, Breakthrough Genomics 0 0 3 0 3 6
Fulgent Genetics, Fulgent Genetics 1 2 0 0 0 3
CeGaT Center for Human Genetics Tuebingen 0 0 1 2 0 3
Ambry Genetics 0 0 2 0 0 2
PreventionGenetics, part of Exact Sciences 0 0 1 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 0 0 2
OMIM 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1

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