ClinVar Miner

Variants studied for PHGDH deficiency

Coded as:
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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
76 28 256 457 24 797

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
PHGDH 75 28 255 454 24 792
HMGCS2, PHGDH 0 0 0 3 0 3
ADAM30, HMGCS2, NOTCH2, PHGDH, REG4 0 0 1 0 0 1
HAO2, HSD3B1, HSD3B2, PHGDH, TBX15, WARS2, ZNF697 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 67 16 218 443 18 762
Genome-Nilou Lab 0 10 31 5 10 56
Natera, Inc. 1 1 20 21 6 49
Illumina Laboratory Services, Illumina 0 0 34 6 8 48
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 5 0 0 0 11
OMIM 10 0 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 2 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 1 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 2
Mendelics 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1

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