ClinVar Miner

Variants studied for autosomal recessive cutis laxa type 2B

Included ClinVar conditions (2):
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
15 4 3 0 0 22

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PYCR1 15 4 3 22

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 7 0 0 7
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 4 0 0 4
Baylor Genetics 2 0 1 3
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 2
Division of Biology and Genetics,University of Brescia 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 1 1

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