ClinVar Miner

Variants studied for Congenital generalized lipodystrophy type 2

Coded as:
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
29 2 1 0 0 32

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BSCL2, HNRNPUL2-BSCL2 27 2 1 30
BSCL2 2 0 0 2

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
GeneReviews 15 0 0 15
OMIM 14 0 0 14
Laboratory of Metabolic Disorders, Peking University First Hospital 3 1 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 1 0 3
Mendelics 2 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 0 1 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 1

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