ClinVar Miner

Variants studied for PHGDH deficiency

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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
68 28 255 432 24 764

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 67 28 254 429 24 759
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: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 61 16 216 418 18 729
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
OMIM 10 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 0 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1

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