ClinVar Miner

Variants studied for apocrine sweat gland disorder

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
64 17 76 54 14 224

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 49 16 73 51 13 201
NCSTN 8 1 2 3 0 14
PSENEN 7 0 1 0 1 9

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 48 14 71 51 13 197
OMIM 14 0 0 0 0 14
Fulgent Genetics, Fulgent Genetics 2 2 2 3 0 9
Genome-Nilou Lab 0 0 0 0 2 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
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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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