Variants studied for Fetal akinesia deformation sequence 3

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
17	37	1	0	4	58

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
DOK7	17	32	1	3	52
DOK7, LOC126806951	0	2	0	1	3
DOK7, LOC129992118	0	2	0	0	2
DOCK7	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Baylor Genetics	17	33	1	0	51
Genome-Nilou Lab	0	0	0	3	3
OMIM	2	0	0	0	2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	2	0	0	2
Institute of Human Genetics, Cologne University	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	1	1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	0	1	0	0	1

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