Variants studied for auriculocondylar syndrome 2

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
12	4	43	10	55	120

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PLCB4	12	4	43	10	55	120

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	39	8	54	101
OMIM	10	0	0	0	0	10
Genome-Nilou Lab	0	0	0	0	4	4
Fulgent Genetics, Fulgent Genetics	0	0	0	2	0	2
Institute of Human Genetics, University of Leipzig Medical Center	1	0	1	0	0	2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	2	0	0	0	0	2
3billion	0	1	1	0	0	2
Baylor Genetics	0	1	0	0	0	1
Mendelics	0	0	0	0	1	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	0	0	0	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1
Institute of Human Genetics, University Hospital Muenster	0	0	1	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	1	0	0	0	1
Tammimies Lab, Karolinska Institutet	1	0	0	0	0	1

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