Variants studied for Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs 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
10	7	5	0	11	30

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
ASPH	10	7	5	10	29
ASPH, LOC130000491	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Genome-Nilou Lab	0	0	0	11	11
OMIM	5	0	0	0	5
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	3	0	5
Centogene AG - the Rare Disease Company	0	0	2	0	2
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology	2	0	0	0	2
Genomics England Pilot Project, Genomics England	0	2	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	1	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	1	0	0	0	1
3billion	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	1
Clinical Genetics Department, Nottingham University Hospitals NHS Trust	0	1	0	0	1

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