ClinVar Miner

Variants studied for Stickler syndrome type 1

Included ClinVar conditions (5):
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
35 8 3 1 0 47

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
COL2A1 35 8 3 1 47

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 18 0 0 0 18
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 3 0 0 12
Center for Human Genetics, Inc 4 4 1 0 9
Fulgent Genetics 3 0 1 0 4
GeneReviews 2 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 0 1 1
Undiagnosed Diseases Network,NIH 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 1

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