ClinVar Miner

Variants studied for cholestasis, progressive familial intrahepatic, 5

Included ClinVar conditions (1):
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 4 4 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NR1H4 4 4 4 12

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 3 0 0 3
Revvity Omics, Revvity 0 0 2 2
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 1 1 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1

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