ClinVar Miner

Variants studied for Berardinelli-Seip congenital lipodystrophy

Included ClinVar conditions (9):
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 likely risk allele uncertain risk allele not provided total
50 15 163 38 24 1 7 31 277

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 likely risk allele uncertain risk allele not provided total
AGPAT2 23 8 67 17 14 1 2 16 131
BSCL2, HNRNPUL2-BSCL2 22 7 91 16 8 0 5 15 129
CAV1 4 0 4 5 2 0 0 0 15
BSCL2 1 0 0 0 0 0 0 0 1
BSCL2, GNG3, HNRNPUL2-BSCL2 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Illumina Laboratory Services, Illumina 1 0 74 18 18 0 0 0 111
Fulgent Genetics, Fulgent Genetics 6 2 51 23 1 0 0 0 83
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 34 0 0 0 0 0 34
GeneReviews 1 0 0 0 0 0 0 31 32
OMIM 28 0 0 0 0 0 0 0 28
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 4 0 0 1 7 0 12
New York Genome Center 0 0 11 0 0 0 0 0 11
Mendelics 8 1 0 0 0 0 0 0 9
Genome-Nilou Lab 0 0 0 0 8 0 0 0 8
Laboratory of Metabolic Disorders, Peking University First Hospital 5 1 0 0 0 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 1 5 0 0 0 0 0 0 6
Genetic Services Laboratory, University of Chicago 5 0 0 0 0 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 1 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 0 0 0 0 0 2
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 2 0 0 0 0 0 0 0 2
3billion 1 0 1 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 1
Sarem Hospital Central Laboratory, Iran University of Medical Science (IUMS) 0 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 0 0 1

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