ClinVar Miner

Variants studied for RFT1-congenital disorder of glycosylation

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
8 7 274 182 29 477

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
RFT1 8 7 254 166 29 444
LOC129936883, RFT1 0 0 19 16 0 32
ALAS1, BAP1, DNAH1, GLT8D1, GLYCTK, GNL3, ITIH1, ITIH3, ITIH4, MIRLET7G, MUSTN1, NEK4, NISCH, NT5DC2, PBRM1, PHF7, POC1A, PPM1M, RFT1, SEMA3G, SFMBT1, SPCS1, STAB1, STIMATE, STIMATE-MUSTN1, TLR9, TNNC1, TWF2, UQCC5, WDR82 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 3 185 177 12 378
Illumina Laboratory Services, Illumina 0 0 97 5 18 120
OMIM 7 0 0 0 0 7
Baylor Genetics 0 1 3 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 1 0 3
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 2 2
3billion 0 1 1 0 0 2
Mendelics 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 0 1 0 0 1

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