Variants studied for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay 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
7	4	4	1	1	2	15

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
GFER	5	2	3	0	1	2	10
GFER, LOC130058203	2	2	1	1	0	0	5

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
OMIM	5	0	0	0	0	0	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	2	0	0	0	3
Baylor Genetics	2	0	0	0	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	2	0	0	0	0	2
Genomics England Pilot Project, Genomics England	2	0	0	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	0	0	1
Revvity Omics, Revvity	1	0	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
UniProtKB/Swiss-Prot	0	0	0	0	0	1	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Genome-Nilou Lab	0	0	0	0	1	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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