ClinVar Miner

Variants studied for achondroplasia

Included ClinVar conditions (4):
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
12 0 4 0 0 1 16

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance not provided total
FGFR3 12 4 1 16

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance not provided total
Fulgent Genetics,Fulgent Genetics 6 3 0 9
OMIM 5 0 0 5
Baylor Genetics 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 1
Human Genetics Institute Leipzig, Universitätsklinikum Leipzig 1 0 0 1
GenomeConnect, ClinGen 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 1

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