ClinVar Miner

Variants studied for Acromicric dysplasia

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 not provided total
39 25 340 61 89 1 543

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 39 25 321 58 82 1 516
FBN1, LOC126862124 0 0 9 2 3 0 12
FBN1, LOC130057020 0 0 6 0 1 0 7
FBN1, LOC113939944 0 0 2 1 1 0 4
FBN1, LOC130057019 0 0 2 0 2 0 4

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 17 10 211 19 0 0 257
Illumina Laboratory Services, Illumina 0 0 108 40 89 0 237
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 9 7 17 2 1 0 36
Juno Genomics, Hangzhou Juno Genomics, Inc 2 4 7 0 0 0 13
Mendelics 5 2 0 0 0 0 7
OMIM 5 0 0 0 0 0 5
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
3billion, Medical Genetics 0 0 1 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 0 0 1 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 1 0 0 0 0 1

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