ClinVar Miner

Variants studied for Ritscher-Schinzel syndrome 1

Included ClinVar conditions (3):
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
2 4 10 3 0 4 22

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
WASHC5 1 3 9 2 1 16
LOC126860498, WASHC5 1 1 0 1 1 3
CCDC22 0 0 0 0 2 2
DPYSL5 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 4
Invitae 1 1 1 0 0 3
GeneReviews 0 0 0 0 3 3
Baylor Genetics 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
OMIM 1 0 0 0 0 1
Mendelics 0 0 0 1 0 1
Dobyns Lab, Seattle Children's Research Institute 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1

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