Variants studied for Deficiency of galactokinase

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
61	66	93	288	21	473

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GALK1	60	66	88	286	16	461
GALK1, ITGB4	1	0	4	2	5	11
GALK1, LOC130061683	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	54	9	38	276	14	391
Natera, Inc.	4	0	15	17	5	41
Illumina Laboratory Services, Illumina	0	0	29	5	7	41
Baylor Genetics	5	31	0	0	0	36
Counsyl	2	11	21	1	0	35
Myriad Genetics, Inc.	0	16	1	0	0	17
Genome-Nilou Lab	0	1	4	2	3	10
Revvity Omics, Revvity	3	2	3	0	0	8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	4	3	0	0	0	7
OMIM	6	0	0	0	0	6
Mendelics	0	2	1	0	1	4
Fulgent Genetics, Fulgent Genetics	1	1	1	0	0	3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	2	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	1
Molecular Genetics Laboratory, Institute for Ophthalmic Research	1	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1
3billion	1	0	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	1	0	0	1
Department of Human Genetics, Hannover Medical School	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	1

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