Variants studied for Ehlers-Danlos syndrome, cardiac valvular type

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
12	5	12	5	0	9	43

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	not provided	total
COL1A2	12	5	12	5	8	42
COL1A1	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	not provided	total
Fulgent Genetics, Fulgent Genetics	5	0	7	5	0	17
OMIM	6	0	0	0	0	6
GenomeConnect, ClinGen	0	0	0	0	4	4
Juno Genomics, Hangzhou Juno Genomics, Inc	1	1	1	0	0	3
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	3	3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	2	0	0	2
GenomeConnect - Brain Gene Registry	0	0	0	0	2	2
Baylor Genetics	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	0	0	0	1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII	0	1	0	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	1	0	0	0	1
DASA	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1

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