Variants studied for Alport syndrome 3b, autosomal recessive

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
10	14	10	0	0	32

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
COL4A3, MFF-DT	10	14	9	31
COL4A3	0	0	1	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	2	4	7	13
3billion	0	3	2	5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	3	0	0	3
Medical Genetics Department, Charles Nicolle Hospital Tunis	0	3	0	3
Laboratory of Prof. Karen Avraham, Tel Aviv University	1	1	0	2
SIB Swiss Institute of Bioinformatics	0	2	0	2
Baylor Genetics	1	0	0	1
Mendelics	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	1
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences	1	0	0	1

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