Variants studied for Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria

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
22	38	49	52	0	161

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
COL4A3, MFF-DT	21	38	45	49	153
COL4A3, LOC129935730	1	0	3	3	7
COL4A3, COL4A4	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 3

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Fulgent Genetics, Fulgent Genetics	22	36	49	52	159
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	1
University of Iowa Renal Genetics Clinic, University of Iowa	0	1	0	0	1

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