Variants in gene combination CIZ1, DNM1

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
4	6	19	22	4	50

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Developmental and epileptic encephalopathy, 31	2	3	14	14	3	35
not provided	1	2	3	4	1	11
Inborn genetic diseases	2	0	2	2	2	8
not specified	0	0	0	3	2	5
Cerebellar ataxia; Global developmental delay; Seizure; Stereotypic movement disorder; Epileptic encephalopathy; Hypotonia	0	1	0	0	0	1
Developmental and epileptic encephalopathy 31B	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	1	2	12	14	3	32
GeneDx	1	2	2	6	2	13
Ambry Genetics	2	0	2	2	2	8
Fulgent Genetics, Fulgent Genetics	0	0	0	1	1	2
CeGaT Center for Human Genetics Tuebingen	0	0	0	2	0	2
OMIM	1	0	0	0	0	1
Athena Diagnostics Inc	0	0	0	0	1	1
Revvity Omics, Revvity	0	0	1	0	0	1
Mendelics	0	0	1	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	1
DASA	1	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	1	0	0	0	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	0	1

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