ClinVar Miner

Variants studied for Acromicric dysplasia

Included ClinVar conditions (6):
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
41 26 323 50 88 2 516

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 41 26 307 47 81 2 492
FBN1, LOC126862124 0 0 8 2 3 0 11
FBN1, LOC130057020 0 0 4 0 1 0 5
FBN1, LOC113939944 0 0 2 1 1 0 4
FBN1, LOC130057019 0 0 2 0 2 0 4

Submitter and significance breakdown #

Total submitters: 21
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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 78 29 88 0 195
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 10 7 16 2 1 0 36
Juno Genomics, Hangzhou Juno Genomics, Inc 3 5 8 0 0 0 16
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 14 0 0 0 15
Mendelics 5 2 0 0 0 0 7
OMIM 5 0 0 0 0 0 5
3billion 0 0 2 1 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 1 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 Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Molecular Lab, Department of Haematology, Christian Medical College 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1

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