ClinVar Miner

Variants in gene RDX

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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
14 9 180 78 24 286

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 4 2 58 64 24 145
Autosomal recessive nonsyndromic hearing loss 24 10 6 80 3 2 100
Inborn genetic diseases 0 0 31 1 0 32
not specified 0 0 14 13 2 29
Hearing loss, autosomal recessive 0 0 22 4 0 26
RDX-related disorder 0 0 0 10 0 10
Hearing impairment 0 0 2 0 0 2
Nonsyndromic genetic hearing loss 0 1 0 0 0 1
Rare genetic deafness 1 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 total
Illumina Laboratory Services, Illumina 0 0 99 6 0 105
Labcorp Genetics (formerly Invitae), Labcorp 3 0 20 45 8 76
GeneDx 0 0 26 26 19 71
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 16 13 2 33
Ambry Genetics 0 0 31 1 0 32
Breakthrough Genomics, Breakthrough Genomics 0 0 7 1 7 15
PreventionGenetics, part of Exact Sciences 0 0 0 10 0 10
CeGaT Center for Human Genetics Tuebingen 1 0 4 3 0 8
Eurofins Ntd Llc (ga) 0 0 6 1 0 7
OMIM 4 0 0 0 0 4
Athena Diagnostics 0 0 1 1 1 3
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
Laboratory of Molecular Medicine of IMOMA, Instituto de Medicina Oncológica y Molecular de Asturias 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
King Laboratory, University of Washington 0 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 1
Miami Human Genetics, University Of Miami Miller School Of Medicine 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 1
3billion 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 1

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