ClinVar Miner

Variants studied for Branchiootorenal syndrome 2

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
4 0 3 0 1 7

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance benign total
SIX5 1 3 1 4
LOC107075317, SIX5 2 0 0 2
DM1, LOC107075317, SIX5 1 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance benign total
OMIM 3 1 0 4
GeneReviews 4 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 1
Mendelics 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1

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