Variants studied for Abetalipoproteinaemia

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	not provided	total
20	58	115	29	40	5	247

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
MTTP	20	57	111	28	38	5	241
LOC126807124, MTTP	0	1	4	1	2	0	6

Submitter and significance breakdown #

Total submitters: 23

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	60	9	31	0	100
Natera, Inc.	5	2	50	13	25	0	95
Myriad Genetics, Inc.	0	48	0	0	0	0	48
Genome-Nilou Lab	0	0	7	3	5	0	15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	9	4	0	0	0	0	13
OMIM	9	0	0	0	0	0	9
New York Genome Center	0	0	9	0	0	0	9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	4	2	0	6
GeneReviews	0	0	0	0	0	5	5
Baylor Genetics	1	1	2	0	0	0	4
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	3	0	4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	4	0	0	4
Revvity Omics, Revvity	2	1	0	0	0	0	3
Counsyl	1	1	0	1	0	0	3
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	0	1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	0	0	1	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	0	0	0	0	1
Pars Genome Lab	0	0	1	0	0	0	1
3billion	1	0	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	1	0	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	0	1

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