ClinVar Miner

Variants studied for X-linked retinoschisis

Included ClinVar conditions (2):
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
30 33 13 8 6 81

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
CDKL5, RS1 26 25 10 7 3 63
RS1 4 8 3 1 3 18

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 2 0 6 8 6 22
OMIM 11 0 0 0 0 11
Counsyl 3 8 0 0 0 11
3billion 3 7 0 0 0 10
Baylor Genetics 6 2 1 0 0 9
Institute of Medical Molecular Genetics, University of Zurich 0 6 0 0 0 6
Fulgent Genetics, Fulgent Genetics 4 0 0 0 0 4
Molecular Genetics Laboratory, Institute for Ophthalmic Research 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 1 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 1 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 0 0 2
Myriad Genetics, Inc. 1 1 0 0 0 2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 1 1 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Genome-Nilou Lab 1 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 1
DBGen Ocular Genomics 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1
Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University 1 0 0 0 0 1

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