ClinVar Miner

Variants studied for adult Refsum disease

Included ClinVar conditions (4):
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
27 12 96 61 16 197

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PEX7 24 8 63 51 9 144
PHYH 3 4 33 10 7 53

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 22 7 28 46 4 107
Illumina Clinical Services Laboratory,Illumina 1 0 64 11 12 88
OMIM 7 0 0 0 0 7
Counsyl 0 2 3 1 0 6
Fulgent Genetics,Fulgent Genetics 3 0 2 1 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 2 4 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 3
Baylor Genetics 1 0 1 0 0 2
GeneReviews 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Mendelics 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 1

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