ClinVar Miner

Variants in gene ABCG8

See also:
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
15 4 154 10 13 187

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 9 2 126 0 2 138
Sitosterolemia 9 2 36 7 5 58
not specified 0 0 0 3 10 13
Sitosterolemia; Gallbladder disease 4 0 0 2 0 0 2
Congenital hemolytic anemia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 2 124 3 10 148
Illumina Clinical Services Laboratory,Illumina 2 1 36 7 5 51
OMIM 9 0 0 0 0 9
Invitae 2 0 3 0 0 5
GeneDx 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 0 0 1 0 0 1

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