ClinVar Miner

Variants in gene ADAMTS2

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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
3 5 161 101 54 275

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ehlers-Danlos syndrome, type vii, autosomal recessive 3 4 134 41 46 203
not specified 0 0 7 64 29 94
not provided 1 1 41 2 8 52
See cases 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 1 1 30 62 26 120
Illumina Clinical Services Laboratory,Illumina 1 0 80 22 17 120
Invitae 1 0 54 19 25 99
Integrated Genetics/Laboratory Corporation of America 1 0 0 2 15 18
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 6 1 8 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 13 1 0 14
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 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 2
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

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