ClinVar Miner

Variants studied for Hao-Fountain syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
9 19 16 0 1 44

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 16 1 43
ABAT, CARHSP1, METTL22, PMM2, TMEM114, TMEM186, USP7 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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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
Illumina Laboratory Services, Illumina 0 1 2 0 3
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
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
Clinical Genomics Program, 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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