Variants studied for Martsolf syndrome

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	not provided	total
1	4	104	20	18	3	149

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
RAB3GAP2	1	4	104	20	18	2	148
RAB3GAP1	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	103	20	16	0	139
GeneReviews	0	0	0	0	0	3	3
Genome-Nilou Lab	0	0	0	0	3	0	3
Baylor Genetics	1	0	1	0	0	0	2
Reproductive Endocrine Unit, Massachusetts General Hospital	0	2	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	1	0	0	0	0	1

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