ClinVar Miner

Variants studied for achromatopsia 3

Included ClinVar conditions (2):
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
83 43 14 0 0 125

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CNGB3 83 43 14 125

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance total
Institute for Ophthalmic Research,University Tuebingen 81 11 6 98
Counsyl 2 33 8 43
OMIM 5 0 0 5
GeneReviews 2 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 0 1
Fulgent Genetics 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 1

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