ClinVar Miner

Variants studied for Cranioectodermal dysplasia 1

Coded as:
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 not provided total
36 13 255 239 45 6 550

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 not provided total
IFT122 35 13 244 230 42 5 529
IFT122, LOC126806810 0 0 6 7 2 0 13
IFT122, LOC129937552 1 0 3 2 1 1 6
IFT122, MBD4 0 0 1 0 0 0 1
IFT122, MBD4, RHO 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 5 192 225 43 0 490
Illumina Laboratory Services, Illumina 0 0 68 8 14 0 90
Fulgent Genetics, Fulgent Genetics 1 4 56 22 2 0 85
OMIM 10 0 0 0 0 0 10
Revvity Omics, Revvity Omics 1 0 5 0 0 0 6
GeneReviews 0 0 0 0 0 6 6
Genome-Nilou Lab 0 0 0 0 5 0 5
Mendelics 0 2 0 0 0 0 2
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 0 1 0 0 1

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