Variants in gene AMBN - ClinVar Miner

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
4	4	45	12	14	74

Condition and significance breakdown #

Total conditions: 4

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not specified	0	0	33	2	0	35
not provided	0	2	9	7	8	24
AMBN-related disorder	0	0	0	5	8	13
Amelogenesis imperfecta type 1F	4	3	5	1	0	11

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	0	0	33	2	0	35
PreventionGenetics, part of Exact Sciences	0	0	0	5	8	13
Labcorp Genetics (formerly Invitae), Labcorp	0	0	1	5	7	13
GeneDx	0	0	8	0	1	9
Leeds Amelogenesis Imperfecta Research Group, University of Leeds	2	3	0	0	0	5
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg	0	0	4	0	0	4
Breakthrough Genomics, Breakthrough Genomics	0	0	0	2	2	4
OMIM	2	0	0	0	0	2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	0	2	0	0	0	2
CeGaT Center for Human Genetics Tuebingen	0	0	0	2	0	2
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	0	1	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	1

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