ClinVar Miner

Variants studied for Ehlers-Danlos syndrome with periventricular heterotopia

Included ClinVar conditions (5):
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
48 23 160 77 97 2 402

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
FLNA 47 23 146 76 92 2 381
FLNA, LOC107988032 1 0 12 1 5 0 19
DNASE1L1, EMD, FLNA, RPL10, TAZ 0 0 1 0 0 0 1
EMD, FLNA 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 12 6 145 76 97 0 336
Claritas Genomics 8 15 6 0 0 0 29
OMIM 14 0 0 0 0 0 14
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 12 0 0 0 0 0 12
Fulgent Genetics 0 0 8 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
Clinical Genetics Group,University of Otago 4 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 1 0 0 0 1

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