ClinVar Miner

Variants studied for Acromelic frontonasal dysostosis

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
1 1 9 0 0 2 11

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
ZSWIM6 1 1 9 2 11

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Baylor Genetics 0 0 3 0 3
GenomeConnect, ClinGen 0 0 0 2 2
OMIM 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 1
3billion 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 1

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