ClinVar Miner

Variants studied for Hao-Fountain syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
9 19 15 0 1 43

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
USP7 8 19 15 1 42
ABAT, CARHSP1, METTL22, PMM2, TMEM114, TMEM186, USP7 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance benign total
Human Genetics Laboratory, Amsterdam University Medical Center 1 12 1 0 14
New York Genome Center 0 0 6 0 6
OMIM 5 0 0 0 5
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 2 0 0 3
3billion 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 2
Baylor Genetics 0 0 1 0 1
Revvity Omics, Revvity 0 0 1 0 1
MGZ Medical Genetics Center 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 1

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