ClinVar Miner

Variants studied for branchiootic syndrome

Included ClinVar conditions (5):
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
10 5 71 18 58 162

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EYA1 5 2 44 14 40 105
SIX1 5 3 25 4 18 55
MIR9718, SIX1 0 0 1 0 0 1
SIX1, SIX4, SIX6 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 65 16 58 139
OMIM 7 0 0 0 0 7
Invitae 0 0 3 2 2 7
GeneReviews 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Clinical Genetics Research Group, University of Calgary 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1

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