ClinVar Miner

Variants studied for Permanent neonatal diabetes mellitus

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 not provided total
10 9 143 46 41 67 310

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ABCC8 3 2 81 19 19 13 136
KCNJ11 1 4 24 9 6 24 68
GCK 1 1 37 11 12 4 66
INS, INS-IGF2 3 2 0 0 0 21 23
ABCC8, KCNJ11 0 0 0 5 3 1 7
INS 0 0 0 0 0 3 3
PTF1A 0 0 1 1 1 0 3
ABCC8, LOC110121471 1 0 0 1 0 0 2
PDX1 1 0 0 0 0 1 2

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 117 37 33 0 187
GeneReviews 2 0 0 0 0 61 63
Natera, Inc. 0 4 24 9 8 0 45
UniProtKB/Swiss-Prot 0 0 0 0 0 16 16
Genetic Services Laboratory, University of Chicago 4 3 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Mendelics 1 0 0 0 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
DASA 0 1 0 0 0 0 1

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