ClinVar Miner

Variants studied for hidradenitis suppurativa

Included ClinVar conditions (5):
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
75 17 89 63 14 256

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PSEN1 60 15 86 60 13 232
NCSTN 8 2 2 3 0 15
PSENEN 7 0 1 0 1 9

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 59 13 83 60 13 228
OMIM 14 0 0 0 0 14
Fulgent Genetics, Fulgent Genetics 3 2 2 3 0 10
Genome-Nilou Lab 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 1

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