ClinVar Miner

Variants studied for Cranioectodermal dysplasia 2

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
11 4 113 19 33 1 177

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WDR35 11 3 113 19 31 1 174
LOC129933186, WDR35 0 0 0 0 1 0 1
MATN3, WDR35 0 0 0 0 1 0 1
SPAG17 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 107 19 32 0 158
OMIM 9 0 0 0 0 0 9
Baylor Genetics 3 0 4 0 0 0 7
Genome-Nilou Lab 0 0 0 0 6 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 1 0 0 0 3
Mendelics 0 0 0 0 2 0 2
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon 0 2 0 0 0 0 2
GeneReviews 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1

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