ClinVar Miner

Variants studied for Birt-Hogg-Dube syndrome

Included ClinVar conditions (2):
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
80 13 196 111 35 2 423

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FLCN 80 13 196 111 35 2 423

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 54 6 166 91 13 0 330
Illumina Clinical Services Laboratory,Illumina 0 0 27 20 23 0 70
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 41 4 12 1 2 0 60
OMIM 8 0 0 0 0 0 8
Fulgent Genetics 1 1 4 0 0 0 6
GeneReviews 3 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Department of Medical Genetics,Gazi University 1 0 0 0 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 0 1 0 0 0 1

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