ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, dermatosparaxis type

Included ClinVar conditions (1):
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
9 6 228 95 69 379

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ADAMTS2 8 6 228 95 69 378
ADAMTS2, LOC112997581 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 2 108 76 34 227
Illumina Clinical Services Laboratory,Illumina 1 0 127 19 49 196
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
OMIM 3 0 0 0 0 3
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
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Mendelics 0 0 0 0 1 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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