ClinVar Miner

Variants studied for adult Refsum disease

Included ClinVar conditions (5):
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 not provided total
79 75 207 295 34 3 662

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PEX7 63 44 170 285 25 2 564
PHYH 14 30 35 10 9 0 92
LOC130003374, PHYH 1 1 2 0 0 1 5
AHI1, BCLAF1, IFNGR1, IL20RA, IL22RA2, LINC02539, MAP3K5, MAP7, MTFR2, OLIG3, PDE7B, PEX7, SLC35D3, TNFAIP3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 62 12 140 279 17 0 510
Illumina Laboratory Services, Illumina 1 0 64 11 12 0 88
Baylor Genetics 26 51 1 0 0 0 78
Fulgent Genetics, Fulgent Genetics 6 2 7 3 0 0 18
OMIM 15 0 0 0 0 0 15
Genome-Nilou Lab 0 0 1 1 8 0 10
Counsyl 0 2 3 1 0 0 6
Myriad Genetics, Inc. 0 6 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 3 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 1 0 0 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1

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