Variants studied for aromatase deficiency

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
13	14	83	15	28	144

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
CYP19A1, MIR4713HG, PIRC66	13	14	75	14	26	133
CYP19A1	0	0	5	0	1	6
CYP19A1, LOC110386951, MIR4713HG, PIRC66	0	0	2	0	1	3
CYP19A1, LOC110386947	0	0	1	0	0	1
GLDN	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	59	7	24	90
Natera, Inc.	2	2	22	8	10	44
Fulgent Genetics, Fulgent Genetics	1	11	1	0	0	13
OMIM	10	0	0	0	0	10
3billion, Medical Genetics	0	1	0	1	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	1	0	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	1

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