ClinVar Miner

Variants in gene ADAMTS2

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
8 7 261 185 99 498

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ehlers-Danlos syndrome dermatosparaxis type 8 6 228 95 69 378
not provided 1 1 49 52 33 133
not specified 0 0 7 64 29 94
See cases 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 2 108 99 34 250
Illumina Clinical Services Laboratory,Illumina 1 0 127 19 49 196
GeneDx 1 1 30 90 51 173
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 19 1 0 20
Integrated Genetics/Laboratory Corporation of America 1 0 0 2 15 18
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 6 1 8 15
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 10 10
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 10 10
Counsyl 1 4 2 0 0 7
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
OMIM 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 2 2
Lineagen, Inc 0 0 2 0 0 2
Mendelics 0 0 0 0 1 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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