ClinVar Miner

Variants studied for Thanatophoric dysplasia type 1

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 total
14 0 2 0 0 15

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance total
FGFR3 14 2 15

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic uncertain significance total
GeneReviews 13 0 13
OMIM 10 0 10
Baylor Genetics 4 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 1
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 1

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