ClinVar Miner

Variants studied for cardioectodermal syndrome

Included ClinVar conditions (6):
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
192 21 1064 360 94 1697

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DSP 178 17 733 249 70 1243
JUP 12 4 331 111 24 452
DSP, LOC110121274 2 0 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
Invitae 176 19 979 351 88 1613
Illumina Clinical Services Laboratory,Illumina 0 0 95 9 5 109
OMIM 14 0 0 0 0 14
Fulgent Genetics,Fulgent Genetics 1 0 8 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 5 0 0 5
Mendelics 1 0 0 0 3 4
Baylor Genetics 2 0 1 0 0 3
GeneReviews 1 0 0 0 1 2
Phosphorus, Inc. 0 0 1 0 1 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1

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