ClinVar Miner

Variants studied for Cutis laxa, autosomal recessive, type 1B

Coded as:
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 total
22 13 158 159 21 352

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 total
EFEMP2 21 12 128 145 18 305
EFEMP2, MUS81 1 0 29 14 3 45
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 1
GBE1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 10 7 131 152 17 317
Illumina Laboratory Services, Illumina 0 0 27 4 6 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 6 7 6 20
OMIM 10 0 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 4 3 7
Fulgent Genetics, Fulgent Genetics 0 0 5 1 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 3 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 1 0 5
Revvity Omics, Revvity 0 1 3 0 0 4
Genome-Nilou Lab 0 0 0 0 4 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Mendelics 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 1

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