ClinVar Miner

Variants studied for ARL6-related ciliopathy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
32 21 83 110 5 243

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ARL6 31 21 82 110 5 241
ARL6, EPHA6 1 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 27 9 59 108 4 207
Fulgent Genetics, Fulgent Genetics 2 9 21 2 0 34
Illumina Laboratory Services, Illumina 0 0 18 2 2 22
OMIM 7 0 0 0 0 7
3billion 0 1 2 0 0 3
Department of Medical Genetics, Erciyes University Faculty of Medicine 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Baylor Genetics 1 0 0 0 0 1
Clinical Genetics and Genomics Laboratory, Noor Shahriyar Hospital 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Genetic Diseases Diagnosis Center, Ankara Bilkent City Hospital 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1

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