ClinVar Miner

Variants studied for achondrogenesis type IB

Included ClinVar conditions (3):
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
123 90 238 293 32 705

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC26A2 123 90 231 293 32 698
LOC129994976, SLC26A2 0 0 7 0 0 7

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 118 12 131 277 12 550
Illumina Laboratory Services, Illumina 0 0 103 13 27 143
Baylor Genetics 13 54 1 0 0 68
Natera, Inc. 6 3 21 11 7 48
Counsyl 1 22 0 0 0 23
Fulgent Genetics, Fulgent Genetics 4 4 1 2 0 11
Genome-Nilou Lab 0 0 6 1 1 8
OMIM 5 0 0 0 0 5
Myriad Genetics, Inc. 3 2 0 0 0 5
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1

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