ClinVar Miner

Variants studied for achondrogenesis

Included ClinVar conditions (9):
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
32 30 155 48 19 278

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC26A2 8 24 72 17 10 129
TRIP11 10 2 81 31 9 129
COL2A1 11 3 2 0 0 16
GDF5 2 0 0 0 0 2
GDF5, GDF5OS 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 143 48 11 202
Invitae 6 1 14 0 8 29
Counsyl 2 23 0 0 0 25
OMIM 21 0 0 0 0 21
Fulgent Genetics 5 0 2 0 0 7
Integrated Genetics/Laboratory Corporation of America 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1

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