ClinVar Miner

Variants studied for contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

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 total
12 3 4 0 0 16

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MYH3 12 3 4 16

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 7 0 0 7
Clinical Genetics Group,University of Otago 6 0 1 7
University of Washington Center for Mendelian Genomics, University of Washington 3 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 1 3
Fulgent Genetics,Fulgent Genetics 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 1

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