Variants studied for transposition of the great arteries, dextro-looped

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
30	5	173	357	130	1	694

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	not provided	total
MED13L	28	5	173	357	130	1	692
ACVR1B	1	0	0	0	0	0	1
BMP2	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	25	4	170	357	130	0	686
OMIM	0	0	2	0	0	0	2
Cytogenetics- Mohapatra Lab, Banaras Hindu University	2	0	0	0	0	0	2
Génétique des Maladies du Développement, Hospices Civils de Lyon	1	1	0	0	0	0	2
Baylor Genetics	1	0	0	0	0	0	1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	1	0	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1

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