ClinVar Miner

Variants studied for FAM111A-related skeletal dysplasia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
7 4 11 1 2 1 20

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
FAM111A 5 2 11 1 2 1 17
FAM111A, LOC130005740 2 2 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
OMIM 6 0 0 0 0 0 6
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 3 2 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 1 0 4
3billion 1 0 1 1 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 0 1 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Neonatal Department of Longyan Division, Tianjin Children's Hospital, Tianjin University Children's Hospital 1 0 0 0 0 0 1
Rare Disease Research and Therapeutics Development Group, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade 1 0 0 0 0 0 1

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