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
25 12 196 135 36 4 399

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 15 9 144 125 30 1 321
CCDC22 2 1 30 2 3 2 37
LOC126860498, WASHC5 1 1 14 7 3 1 25
DPYSL5 2 0 6 0 0 0 7
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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 1 0 0 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 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
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
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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 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

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