Variants studied for PHGDH deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
74	28	255	432	24	770

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	73	28	254	429	24	765
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: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	67	16	216	418	18	735
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
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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	1

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