Variants studied for Antley-Bixler syndrome

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
25	6	39	18	8	92

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	benign	total
FGFR2	12	3	28	16	1	59
POR	12	3	10	2	7	32
LOC126860075, POR	1	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	11	4	33	16	1	65
OMIM	13	0	0	0	0	13
Genome-Nilou Lab	0	0	0	0	6	6
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	1	2	0	0	4
Illumina Laboratory Services, Illumina	0	0	2	1	0	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	1	0	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	2	0	0	0	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	0	1	0	1
Mendelics	0	0	0	0	1	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	0	1	0	0	1
Klinisk genetik och genomik Research, Gothenburg University	1	0	0	0	0	1
Pediatric Genetics Clinic, Sheba Medical Center	1	0	0	0	0	1

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