ClinVar Miner

Variants studied for atelosteogenesis

Included ClinVar conditions (11):
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
126 45 264 300 34 10 744

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC26A2 121 42 230 293 33 0 684
FLNB 5 3 27 7 0 10 52
LOC129994976, SLC26A2 0 0 7 0 0 0 7
FLNB, LOC129936935 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 118 12 131 277 12 0 550
Illumina Laboratory Services, Illumina 0 0 109 15 28 0 152
Fulgent Genetics, Fulgent Genetics 4 4 11 9 1 0 29
Counsyl 2 23 0 0 0 0 25
OMIM 10 0 0 0 0 0 10
GeneReviews 0 0 0 0 0 10 10
Baylor Genetics 3 0 5 0 0 0 8
Genome-Nilou Lab 0 0 6 1 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 5 0 0 0 6
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
3billion 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Mendelics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Myriad Genetics, Inc. 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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