ClinVar Miner

Variants in gene MKS1

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Minimum submission review status: Collection method:
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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
54 46 238 122 21 403

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Joubert syndrome; Meckel-Gruber syndrome 30 12 98 92 8 240
not provided 4 5 106 10 7 130
Meckel syndrome type 1 11 18 71 8 8 107
Bardet-Biedl syndrome 13 5 3 48 4 8 68
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 0 18 26 4 0 48
not specified 0 0 7 27 8 37
Joubert syndrome 13 3 0 0 0 16
Joubert syndrome 28 4 3 1 0 0 8
Meckel-Gruber syndrome 2 1 2 0 0 5
Bardet-Biedl syndrome 0 2 2 0 0 4
MKS1-Related Disorders 0 1 2 0 0 3
Polydactyly; Nystagmus; Muscular hypotonia 2 0 0 0 0 2
Leber congenital amaurosis 6; Meckel syndrome type 1 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 1
Peripheral neuropathy 0 0 1 0 0 1
Polycystic kidney disease; Multicystic kidney dysplasia 0 0 1 0 0 1
Polydactyly; Global developmental delay; Rotary nystagmus; Limb undergrowth; Chronic kidney disease 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 30 12 98 97 8 245
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 97 3 0 103
Illumina Clinical Services Laboratory,Illumina 0 2 54 6 8 62
Counsyl 1 21 24 4 0 50
Natera, Inc. 3 1 25 6 5 40
GeneDx 2 1 6 16 10 35
PreventionGenetics, PreventionGenetics 0 0 0 11 7 18
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 15 0 0 0 16
Genetic Services Laboratory, University of Chicago 2 0 6 5 1 14
UW Hindbrain Malformation Research Program,University of Washington 11 2 0 0 0 13
OMIM 12 0 0 0 0 12
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 5 2 0 8
Baylor Genetics 0 0 4 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 3 2 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 0 1 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 3
Universitätsklinikum Salzburg,Universitätskinderklinik 1 1 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 0 2 0 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 1 0 0 0 1
Claritas Genomics 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
InterGenetics 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1

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