ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, cardiac valvular type

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
20 18 14 6 0 12 69

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 20 18 14 6 11 68
COL1A1 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Fulgent Genetics, Fulgent Genetics 9 3 9 5 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 6 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 3 4 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 6 6
OMIM 6 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 5 5
GenomeConnect - Brain Gene Registry 0 0 0 0 2 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 2
Baylor Genetics 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 1
Dasa 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1

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