ClinVar Miner

Variants studied for Cranioectodermal dysplasia 1

Coded as:
Minimum submission review status: Collection method:
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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
43 40 406 278 45 6 761

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 41 38 383 267 42 5 723
IFT122, LOC126806810 1 0 16 8 2 0 25
IFT122, LOC129937552 1 2 5 3 1 1 11
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 31 10 199 263 43 0 546
Fulgent Genetics, Fulgent Genetics 2 25 237 24 2 0 290
Illumina Laboratory Services, Illumina 0 0 68 8 14 0 90
OMIM 10 0 0 0 0 0 10
Revvity Omics, Revvity 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Mendelics 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 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
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
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 0 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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