Variants studied for microphthalmia with brain and digit anomalies

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
9	2	69	42	22	135

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
BMP4	8	2	69	42	19	131
BMP4, LOC109433677	0	0	0	0	3	3
BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	3	0	63	35	11	112
Illumina Laboratory Services, Illumina	0	0	0	7	11	18
Fulgent Genetics, Fulgent Genetics	0	0	5	2	0	7
OMIM	6	0	0	0	0	6
Genome-Nilou Lab	0	0	0	0	4	4
Mendelics	0	0	0	1	1	2
MVZ Medizinische Genetik Mainz	0	1	1	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital	0	1	0	0	0	1

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