ClinVar Miner

Variants studied for brachydactyly type B1

Included ClinVar conditions (3):
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 3 86 38 64 1 197

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ROR2 10 3 86 38 64 1 196
​intergenic 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 44 11 62 0 117
Fulgent Genetics, Fulgent Genetics 0 2 44 27 2 0 75
OMIM 7 0 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 5 0 5
Baylor Genetics 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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