ClinVar Miner

Variants studied for Berardinelli-Seip congenital lipodystrophy

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 likely risk allele uncertain risk allele not provided total
50 11 161 38 24 1 7 31 271

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 22 6 67 17 14 1 2 16 128
BSCL2, HNRNPUL2-BSCL2 23 5 89 16 8 0 5 15 126
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: 24
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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
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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 3 0 0 0 0 0 0 4
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 0 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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

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