ClinVar Miner

Variants studied for Ritscher-Schinzel syndrome

Included ClinVar conditions (8):
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
27 16 200 137 36 4 409

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WASHC5 17 11 145 127 30 1 326
CCDC22 2 1 31 2 3 2 38
LOC126860498, WASHC5 1 2 14 7 3 1 26
DPYSL5 2 1 8 0 0 0 10
VPS35L 5 0 0 1 0 0 6
AGBL5, CENPA, CGREF1, CIB4, DPYSL5, EMILIN1, KCNK3, KHK, MAPRE3, OST4, SLC35F6, TMEM214 0 0 1 0 0 0 1
LOC126862307, VPS35L 0 1 0 0 0 0 1
NSMCE2, WASHC5 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 15 7 154 129 33 0 338
Revvity Omics, Revvity 0 0 12 0 0 0 12
OMIM 10 0 0 0 0 0 10
Baylor Genetics 0 0 9 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 4 3 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
3billion 0 0 0 2 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 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 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 1
Genetics and Personalized Medicine, Danish Epilepsy Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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