ClinVar Miner

Variants studied for diastrophic dysplasia

Included ClinVar conditions (2):
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
27 43 120 24 31 231

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC26A2 27 43 120 24 31 231

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 114 12 26 152
Invitae 19 6 7 12 10 54
Counsyl 1 22 0 0 0 23
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 18 0 0 0 19
GeneReviews 8 0 0 0 2 10
OMIM 6 0 0 0 0 6
Myriad Women's Health, Inc. 3 1 0 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 1 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 1

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