Variants studied for Tietz syndrome

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
21	11	269	155	46	491

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
MITF	21	11	267	155	44	487
LOC107988030, MITF	0	0	2	0	2	4

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	19	7	213	151	12	402
Illumina Laboratory Services, Illumina	0	0	57	7	43	107
Fulgent Genetics, Fulgent Genetics	0	1	7	0	0	8
OMIM	2	0	0	0	0	2
Mendelics	1	1	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	2	0	0	2
Center for Human Genetics, Inc, Center for Human Genetics, Inc	1	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	0	1
3billion	1	0	0	0	0	1

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