Variants in gene combination LOC130006765, PTS

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
10	13	14	23	1	54

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	9	11	10	21	0	45
not provided	0	2	1	2	1	6
not specified	0	0	3	0	0	3
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency	1	0	0	0	0	1
Inborn genetic diseases	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	8	2	8	20	0	38
Baylor Genetics	2	6	0	0	0	8
GeneDx	0	2	1	2	1	6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	1	3	0	0	6
Counsyl	0	2	1	0	0	3
Natera, Inc.	1	1	0	1	0	3
Fulgent Genetics, Fulgent Genetics	0	3	0	0	0	3
OMIM	2	0	0	0	0	2
Ambry Genetics	0	0	1	0	0	1
Revvity Omics, Revvity	0	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	0	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	1	0	0	0	1
Genome-Nilou Lab	0	1	0	0	0	1
Medical Genetics Research Center, Mashhad University of Medical Sciences	0	1	0	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	0	0	0	1	1

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