ClinVar Miner

Variants studied for autosomal recessive cutis laxa type 1

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
26 13 161 159 22 19 365

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EFEMP2 20 12 128 145 18 9 304
EFEMP2, MUS81 1 0 29 14 3 2 45
FBLN5 5 0 3 0 1 8 14
B4GAT1, BANF1, BRMS1, C11orf68, CATSPER1, CCDC85B, CD248, CNIH2, CST6, CTSW, DRAP1, EFEMP2, EIF1AD, FIBP, FOSL1, GAL3ST3, KLC2, LOC111413017, LOC112081411, LOC116216147, LOC116216148, LOC121832794, LOC124500674, LOC126861238, LOC130006078, LOC130006079, LOC130006080, LOC130006081, LOC130006082, LOC130006083, LOC130006084, LOC130006085, LOC130006086, LOC130006087, LOC130006088, LOC130006089, LOC130006090, LOC130006091, LOC130006092, LOC130006093, LOC130006094, LOC130006095, LOC130006096, LOC130006097, LOC130006098, LOC130006099, LOC130006100, LOC130006101, LOC130006102, LOC130006103, LOC130006104, LOC130006105, LOC130006106, LOC130006107, LOC130006108, LOC130006109, LOC130006110, LOC130006111, LOC130006112, LOC130006113, LOC130006114, LOC130006115, MUS81, PACS1, RAB1B, RIN1, SART1, SF3B2, SNORD13F, TMEM151A, TSGA10IP, YIF1A 0 0 1 0 0 0 1
GBE1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 7 131 152 17 0 317
Illumina Laboratory Services, Illumina 0 0 27 4 6 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 6 7 6 0 20
GeneReviews 0 0 0 0 0 18 18
OMIM 13 0 0 0 0 0 13
Fulgent Genetics, Fulgent Genetics 0 0 7 1 0 0 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 3 0 7
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 3 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 1 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Revvity Omics, Revvity 0 1 3 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Mendelics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1

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