ClinVar Miner

Variants in gene COL9A1

Minimum submission review status: Collection method:
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Gene type:
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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
14 12 183 111 78 373

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 10 12 174 83 54 321
not specified 0 0 3 35 33 67
Stickler syndrome, type 4 3 0 2 0 0 5
Multiple Epiphyseal Dysplasia, Dominant 0 0 3 0 1 4
Multiple epiphyseal dysplasia 6 2 0 0 1 1 4
Stickler Syndrome, Recessive 0 0 3 0 1 4
Hearing impairment 0 0 3 0 0 3
Multiple epiphyseal dysplasia 6; Stickler syndrome, type 4 0 0 3 0 0 3
COL9A1-Related Disorders 0 0 1 0 0 1
Inborn genetic diseases 0 1 0 0 0 1
Marfan syndrome 0 0 0 1 0 1
See cases 1 0 0 0 0 1
Sensorineural hearing loss 1 0 0 0 0 1
none provided 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 3 144 57 9 222
GeneDx 1 4 23 60 59 147
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 2 29 3 8 42
PreventionGenetics, PreventionGenetics 0 0 0 6 27 33
Athena Diagnostics Inc 0 1 2 2 5 10
Illumina Clinical Services Laboratory,Illumina 0 0 4 0 1 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 0 0 0 4
OMIM 3 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 3 0 0 3
Mendelics 0 0 0 1 1 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
Baylor Genetics 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 1
Ambry Genetics 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 1
GeneReviews 1 0 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
MNM Diagnostics 0 0 0 1 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 1

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