Variants studied for CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia

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
13	3	365	107	7	2	497

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CHD7	13	3	347	103	7	2	475
CHD7, LOC126860403	0	0	18	4	0	0	22

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	7	2	356	98	7	0	470
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	7	2	0	0	9
3billion, Medical Genetics	0	0	0	7	0	0	7
Juno Genomics, Hangzhou Juno Genomics, Inc	1	1	2	0	0	0	4
New York Genome Center	0	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Baylor Genetics	1	0	0	0	0	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	0	0	0	0	0	1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	1	0	0	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	1	0	0	0	0	0	1
Molecular Genetics Lab, CHRU Brest	0	0	1	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	1	0	0	0	0	0	1

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