Variants studied for Fetal akinesia deformation sequence 1

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
8	10	50	5	15	87

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
RAPSN	1	1	38	5	11	56
MUSK	2	6	8	0	2	17
DOK7	4	1	4	0	2	11
GLDN	0	2	0	0	0	2
ASCC1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	37	5	11	53
Baylor Genetics	2	0	13	0	0	15
Mendelics	3	1	0	0	2	6
OMIM	2	0	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	2	0	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	2	0	0	0	2
Pediatric Genomics Discovery Program, Yale University	0	2	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	1	0	0	0	1
Cirak Lab, University Hospital Cologne	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	1	0	0	0	0	1

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