Variants studied for Joubert syndrome 16

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
14	9	93	44	6	152

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
TMEM138	14	9	93	44	6	152

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	9	2	52	42	5	110
Fulgent Genetics, Fulgent Genetics	0	6	30	1	0	37
Illumina Laboratory Services, Illumina	0	0	24	1	2	27
OMIM	5	0	0	0	0	5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	2	0	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	1	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	1	0	0	2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	1	1
Daryl Scott Lab, Baylor College of Medicine	1	0	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	0	1	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	1	1
Revvity Omics, Revvity	0	1	0	0	0	1
UW Hindbrain Malformation Research Program, University of Washington	1	0	0	0	0	1

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