Variants studied for Perry 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	not provided	total
10	3	622	479	72	5	1141

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	not provided	total
DCTN1	10	3	622	479	72	5	1141

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	7	2	580	468	49	0	1106
Illumina Laboratory Services, Illumina	0	0	31	10	43	0	84
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	27	0	0	0	27
Fulgent Genetics, Fulgent Genetics	0	0	14	6	1	0	21
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	4	4
OMIM	3	0	0	0	0	0	3
Department of Neurology, Xijing Hospital, Fourth Military Medical University	0	1	1	0	0	0	2
GeneReviews	0	0	0	0	0	1	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Laboratorio de Biología Molecular, FLENI	1	0	0	0	0	0	1

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