ClinVar Miner

Variants studied for BMP4-related ocular growth disorder

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 8 126 56 22 208

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BMP4 8 7 126 56 19 203
BMP4, LOC109433677 0 0 0 0 3 3
BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A 1 0 0 0 0 1
BMP4, MIR5580 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 4 0 91 46 11 152
Fulgent Genetics, Fulgent Genetics 0 2 45 6 0 53
Illumina Laboratory Services, Illumina 0 0 0 7 11 18
OMIM 6 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 4 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 2
Mendelics 0 0 0 1 1 2
3billion 0 1 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, Uf Genomique Du Developpement, Assistance Publique Hopitaux de Paris Sorbonne Université 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1

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