ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, arthrochalasia type

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
19 7 218 163 93 9 503

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL1A1 17 6 88 26 72 5 208
COL5A2 0 0 49 59 0 0 108
COL5A1 0 0 44 42 7 0 93
COL5A1, LOC101448202 0 0 33 36 10 0 79
COL1A2 0 1 3 0 1 3 8
COL1A1, LOC126862586 1 0 1 0 3 1 6
ALB 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 202 154 84 0 439
Fulgent Genetics, Fulgent Genetics 14 2 9 8 4 0 37
Genome-Nilou Lab 0 0 0 0 9 0 9
GenomeConnect, ClinGen 0 0 0 0 0 6 6
OMIM 4 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 1 0 3
3billion 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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