ClinVar Miner

Variants in gene PLOD1

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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
24 6 149 89 23 258

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Ehlers-Danlos syndrome, hydroxylysine-deficient 14 3 116 47 13 176
Cardiovascular phenotype 3 1 30 23 18 75
not specified 0 0 3 40 16 57
not provided 9 2 20 4 10 45
Porencephalic cyst; Hydrocephalus; Dolichocephaly; Narrow chest; Neonatal hypotonia; Umbilical hernia; Macrocephaly at birth; Severe global developmental delay 2 0 0 0 0 2
Short chin; Feeding difficulties; Bilateral cryptorchidism; Scrotal hypoplasia; Joint hypermobility; Generalized neonatal hypotonia 2 0 0 0 0 2
Congenital omphalocele; High palate; Depressed nasal bridge; Generalized hypotonia; Joint hypermobility; Thoracolumbar scoliosis 1 0 0 0 0 1
Ehlers-Danlos syndrome 0 0 1 0 0 1
Kyphoscoliosis; High palate; Tall stature; Bilateral cryptorchidism; Dilatation; Joint hypermobility; Mitral valve prolapse; Deep venous thrombosis; Thromboembolism 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 1 70 36 9 118
Ambry Genetics 3 1 30 23 18 75
GeneDx 6 1 13 38 14 72
Illumina Clinical Services Laboratory,Illumina 0 0 45 11 4 60
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 6 4 11 21
OMIM 10 0 0 0 0 10
PreventionGenetics 0 0 0 2 5 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 1 1 2 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 2 2 0 5
Baylor Miraca Genetics Laboratories, 3 0 1 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 2 0 0 4
Fulgent Genetics 0 0 2 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1

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