ClinVar Miner

Variants in gene combination AGPS, LOC129935172

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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
0 0 35 56 5 84

Condition and significance breakdown #

Total conditions: 6
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Condition uncertain significance likely benign benign total
not provided 17 49 5 69
Rhizomelic chondrodysplasia punctata type 3 8 7 2 14
Inborn genetic diseases 8 1 0 9
Rhizomelic chondrodysplasia punctata 7 1 1 9
not specified 4 2 1 7
AGPS-related disorder 0 2 0 2

Submitter and significance breakdown #

Total submitters: 15
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Submitter uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 14 48 5 67
Natera, Inc. 7 4 2 13
Illumina Laboratory Services, Illumina 6 4 0 10
Ambry Genetics 8 1 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 2 1 5
GeneDx 2 2 1 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 4
Breakthrough Genomics, Breakthrough Genomics 2 2 0 4
PreventionGenetics, part of Exact Sciences 0 2 1 3
Eurofins Ntd Llc (ga) 2 0 1 3
Genetic Services Laboratory, University of Chicago 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 1
Fulgent Genetics, Fulgent Genetics 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 1
Pars Genome Lab 0 0 1 1

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