ClinVar Miner

Variants studied for 3-phosphoglycerate dehydrogenase deficiency

Included ClinVar conditions (5):
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
96 35 376 546 37 1043

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PHGDH 71 28 256 429 24 761
PSAT1 23 7 119 114 13 276
HMGCS2, PHGDH 0 0 0 3 0 3
ADAM30, HMGCS2, NOTCH2, PHGDH, REG4 0 0 1 0 0 1
CEP78, GNA14, GNAQ, PSAT1, VPS13A 1 0 0 0 0 1
HAO2, HSD3B1, HSD3B2, PHGDH, TBX15, WARS2, ZNF697 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 82 22 332 532 29 997
Genome-Nilou Lab 0 10 31 5 14 60
Natera, Inc. 1 1 20 21 6 49
Illumina Laboratory Services, Illumina 0 0 34 6 8 48
OMIM 17 0 0 0 0 17
Baylor Genetics 1 1 5 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 5 0 0 0 7
Fulgent Genetics, Fulgent Genetics 1 1 2 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
Counsyl 0 0 2 0 0 2
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
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Mendelics 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 1

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