ClinVar Miner

Variants studied for Ehlers-Danlos syndrome, musculocontractural type

Included ClinVar conditions (3):
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
26 2 204 166 20 3 413

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DSE 2 0 118 101 14 0 234
CHST14 20 2 66 52 5 3 142
CHST14, LOC130056851 4 0 20 13 0 0 36
DSE, LOC129997034, TSPYL1 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 1 192 166 19 0 390
OMIM 13 0 0 0 0 0 13
Baylor Genetics 0 0 8 0 0 0 8
Revvity Omics, Revvity 0 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 0 2 1 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 2 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 1 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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