ClinVar Miner

Variants in gene PLOD1

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Minimum submission review status: Collection method:
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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
31 6 205 118 44 365

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 22 3 176 51 24 259
not provided 10 2 26 36 17 91
Cardiovascular phenotype 3 1 30 23 18 75
not specified 0 0 4 40 15 58
Acquired porencephaly; 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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 2 121 70 12 214
GeneDx 7 1 13 48 27 96
Illumina Clinical Services Laboratory,Illumina 0 0 62 8 15 85
Ambry Genetics 3 1 30 23 18 75
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 10 7 19 37
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 9 1 0 11
OMIM 10 0 0 0 0 10
PreventionGenetics,PreventionGenetics 0 0 0 2 5 7
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 1 1 2 7
Baylor Genetics 3 0 1 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 4
Mendelics 1 0 1 0 0 2
Fulgent Genetics,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
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's 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
Gharavi Laboratory,Columbia University 0 0 1 0 0 1

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