ClinVar Miner

Variants studied for ectodermal dysplasia and immunodeficiency 2

Included ClinVar conditions (1):
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
12 1 131 134 45 313

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NFKBIA 8 1 100 105 41 248
LOC130055494, NFKBIA 0 0 16 14 1 29
LOC130055497, NFKBIA 4 0 13 11 2 29
LOC130055496, NFKBIA 0 0 1 4 1 6
BAZ1A, CFL2, FAM177A1, NFKBIA, PPP2R3C, PRORP, PSMA6, SRP54 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 119 130 34 285
Illumina Laboratory Services, Illumina 0 0 12 3 19 34
OMIM 10 0 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Baylor Genetics 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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