ClinVar Miner

Variants in gene combination LOC129389144, PLOD2

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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
1 3 17 7 0 27

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 1 1 9 7 18
Inborn genetic diseases 0 0 7 0 7
Bruck syndrome 2 0 2 3 0 5
Osteogenesis imperfecta 0 0 2 0 2
not specified 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 8 6 15
Ambry Genetics 0 0 7 0 7
GeneDx 0 0 2 1 3
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 2 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 1 1 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 1

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