Variants studied for Dystonia 16

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
3	2	68	35	25	127

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PRKRA	1	0	40	22	11	72
CHROMR, PRKRA	2	2	27	13	10	50
PJVK, PRKRA	0	0	0	0	4	4
CHROMR, FKBP7, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PJVK, PLEKHA3, PRKRA, TTN	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	1	0	36	31	15	83
Illumina Laboratory Services, Illumina	0	0	25	3	14	42
Fulgent Genetics, Fulgent Genetics	1	0	3	3	1	8
Mendelics	2	0	0	0	2	4
OMIM	2	0	0	0	0	2
Baylor Genetics	1	0	1	0	0	2
Revvity Omics, Revvity	0	0	2	0	0	2
3billion	1	1	0	0	0	2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	2	0	0	2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	0	0	1	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	1	0	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	0	1	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	1	1
Genomics England Pilot Project, Genomics England	1	0	0	0	0	1

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