Variants in gene MPLKIP - ClinVar Miner

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
15	4	64	43	7	129

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	10	2	52	41	7	110
Inborn genetic diseases	0	0	17	0	0	17
Trichothiodystrophy 4, nonphotosensitive	6	2	3	0	0	10
MPLKIP-related disorder	0	0	0	3	0	3
See cases	0	0	0	1	0	1
Trichothiodystrophy 1, photosensitive	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	9	0	52	39	3	103
Ambry Genetics	0	0	17	0	0	17
GeneDx	1	2	0	2	4	9
OMIM	3	0	0	0	0	3
PreventionGenetics, part of Exact Sciences	0	0	0	3	0	3
Breakthrough Genomics, Breakthrough Genomics	0	1	0	2	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	1	0	0	2
Baylor Genetics	0	0	1	0	0	1
Revvity Omics, Revvity	1	0	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	0	1
ISCA Site 6	0	0	0	1	0	1
Department of Molecular and Human Genetics, Baylor College of Medicine	1	0	0	0	0	1
Molecular Metabolic laboratory, Sheba Medical Center Tel-Hashomer	1	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	1
3billion	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1

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