ClinVar Miner

Variants studied for Melnick-Fraser syndrome

Coded as:
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
43 3 11 4 9 69

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
EYA1 39 3 11 4 9 65
SIX1 4 0 0 0 0 4

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 29 1 6 4 8 48
OMIM 10 0 0 0 0 10
GeneReviews 4 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 1 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 1 0 0 1
Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine 0 0 0 0 1 1

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