Variants studied for Hartsfield-Bixler-Demyer 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	not provided	total
11	6	5	0	2	7	25

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
FGFR1	11	6	5	2	7	25

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
Muenke lab, National Institutes of Health	6	0	0	2	0	8
GeneReviews	0	0	0	0	7	7
OMIM	3	0	0	0	0	3
Baylor Genetics	1	0	2	0	0	3
Centogene AG - the Rare Disease Company	0	1	1	0	0	2
Laboratory of Molecular Genetics, CHU Rennes	0	2	0	0	0	2
3billion	0	2	0	0	0	2
Illumina Laboratory Services, Illumina	0	0	1	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Wangler Lab, Baylor College of Medicine	1	0	0	0	0	1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province	0	1	0	0	0	1

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