ClinVar Miner

Variants studied for MKKS-related ciliopathy

Included ClinVar conditions (4):
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
77 59 234 211 20 553

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MKKS 77 59 219 207 19 534
LOC128706665, LOC128706666, MKKS 0 0 14 4 1 18
JAG1, MKKS, SLX4IP, SNAP25 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 62 6 154 202 12 436
Fulgent Genetics, Fulgent Genetics 8 11 80 11 0 110
Illumina Laboratory Services, Illumina 0 0 44 6 12 60
Baylor Genetics 9 43 2 0 0 54
OMIM 9 0 0 0 0 9
Mendelics 3 0 0 0 4 7
New York Genome Center 0 0 6 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 1 0 0 5
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 0 1 1 1 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 0 1 2
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 2
3billion, Medical Genetics 1 0 0 1 0 2
MGZ Medical Genetics Center 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
IUMS Hospital Medical Genetics Lab, Iran University of Medical Sciences 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Tolun Lab, Human Genetics Laboratory, Bogazici University 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 0 1 0 0 1
Dr.Nikuei Genetic Center 0 1 0 0 0 1

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