Variants studied for Parkinsonian-pyramidal syndrome

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
39	6	92	196	15	333

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FBXO7	39	6	92	196	15	333

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	36	4	58	193	13	304
Illumina Laboratory Services, Illumina	0	0	35	3	4	42
Fulgent Genetics, Fulgent Genetics	0	0	6	3	0	9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	1	2	3	6
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	2	3	5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	1	1	3	5
OMIM	4	0	0	0	0	4
Revvity Omics, Revvity	0	0	3	0	0	3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	1	0	1	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	1	0	0	0	0	1

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