ClinVar Miner

Variants studied for symphalangism

Included ClinVar conditions (8):
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
26 8 21 2 2 58

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 total
NOG 22 6 2 0 0 29
FGF9 0 0 16 2 2 20
GDF5 3 2 2 0 0 7
ANKFN1, NOG 1 0 0 0 0 1
GDF5, LOC109461476 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 21 0 0 0 0 21
Illumina Laboratory Services, Illumina 0 0 17 2 2 21
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 2 0 0 5
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 1
Precision Medicine Center, Zhengzhou University 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 1
DECIPHERD-UDD, Universidad del Desarrollo 0 1 0 0 0 1

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