ClinVar Miner

Variants in gene GNB3

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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
2 0 118 113 20 249

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic uncertain significance likely benign benign total
not provided 0 113 113 20 243
Inborn genetic diseases 0 22 1 0 23
Congenital stationary night blindness 1H 2 0 0 0 2
GNB3-related condition 0 0 2 0 2
Retinal dystrophy 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 113 113 15 241
Ambry Genetics 0 22 1 0 23
Breakthrough Genomics, Breakthrough Genomics 0 2 2 5 9
GeneDx 0 0 0 6 6
OMIM 2 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 0 2 0 2
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 1 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 1

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