Variants studied for Fraser syndrome 1

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
15	3	390	105	82	587

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
FRAS1	15	2	181	64	45	301
FREM2	0	1	160	33	30	223
GRIP1	0	0	49	8	7	63

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Clinical Services Laboratory,Illumina	0	0	387	103	74	563
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	0	0	0	2	33	35
OMIM	8	0	0	0	0	8
Genome Diagnostics Laboratory,University Medical Center Utrecht	0	0	0	0	8	8
Mendelics	0	0	0	0	6	6
Fulgent Genetics,Fulgent Genetics	0	0	3	0	0	3
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille	2	1	0	0	0	3
Genetic Services Laboratory, University of Chicago	2	0	0	0	0	2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	0	0	2	0	0	2
Centre for Genomic and Experimental Medicine,University of Edinburgh	2	0	0	0	0	2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Ege University Pediatric Genetics,Ege University	1	0	0	0	0	1
Molecular Diagnostics Laboratory, M Health: University of Minnesota	0	1	0	0	0	1
Medical Genetics,Necip Fazıl Sehir Hastanesi	1	0	0	0	0	1

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