ClinVar Miner

Variants studied for cutis laxa

Included ClinVar conditions (33):
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
121 20 330 140 83 2 672

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC2A10 22 2 114 33 18 0 170
ATP7A 16 2 58 23 25 0 124
ELN 7 2 25 38 8 1 81
EFEMP2 9 2 30 24 9 0 72
LTBP4 10 0 32 9 7 0 58
ALDH18A1 12 4 24 5 8 1 53
GORAB 6 3 30 7 3 0 49
ATP6V0A2 11 1 4 0 2 0 17
PYCR1 13 1 1 0 0 0 15
EFEMP2, MUS81 1 0 8 1 2 0 11
FBLN5 6 0 1 0 1 0 8
RIN2 3 1 0 0 0 0 4
ATP6V1A 2 0 0 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
ABCC6 1 0 0 0 0 0 1
B4GAT1, BANF1, BRMS1, C11orf68, CATSPER1, CCDC85B, CD248, CNIH2, CST6, CTSW, DRAP1, EFEMP2, EIF1AD, FIBP, FOSL1, GAL3ST3, KLC2, LOC111413017, LOC112081411, MUS81, PACS1, RAB1B, RIN1, SART1, SF3B2, SNORD13F, TMEM151A, TSGA10IP, YIF1A 0 0 1 0 0 0 1
COL5A1 0 1 0 0 0 0 1
FAM120AOS 0 1 0 0 0 0 1
SLC39A13 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 17 6 181 66 52 0 322
Illumina Clinical Services Laboratory,Illumina 1 1 138 66 22 0 228
OMIM 79 0 0 0 0 0 79
GeneReviews 44 0 0 0 9 0 53
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 7 11 0 18
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 9 5 0 14
Fulgent Genetics,Fulgent Genetics 0 0 13 0 0 0 13
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 7 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 3 0 5
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 2 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 1 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 1 0 0 0 0 0 1
Myelin Disorders Clinic,Children's Medical Center 0 1 0 0 0 0 1

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