Variants studied for amelogenesis imperfecta type 2

Minimum submission review status:		Collection method:
Minimum conflict level:
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
35	1	158	15	10	218

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
WDR72	5	0	110	14	4	133
MMP20	4	1	48	1	6	59
AMELX, ARHGAP6	11	0	0	0	0	11
ODAPH	5	0	0	0	0	5
SLC24A4	4	0	0	0	0	4
GPR68	3	0	0	0	0	3
KLK4	3	0	0	0	0	3

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Clinical Services Laboratory,Illumina	0	1	158	15	10	184
OMIM	32	0	0	0	0	32
Department of Genetics,Sultan Qaboos University Hospital, Oman	2	0	0	0	0	2
Institute of Human Genetics,University Hospital Ulm	1	0	0	0	0	1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds	1	0	0	0	0	1
Division of Molecular Medicine,Faculty of Medicine Siriraj Hospital, Mahidol University	1	0	0	0	0	1

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