Variants in gene CPLX1 - 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
3	4	38	34	4	78

Condition and significance breakdown #

Total conditions: 7

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	0	0	22	32	4	57
Inborn genetic diseases	0	0	18	0	0	18
Developmental and epileptic encephalopathy, 63	3	4	3	0	2	8
CPLX1-related disorder	0	0	0	5	1	6
4p partial monosomy syndrome; Developmental and epileptic encephalopathy, 63	0	0	1	0	0	1
Abnormal brain morphology	0	1	0	0	0	1
Primary ciliary dyskinesia 18	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	0	20	30	2	52
Ambry Genetics	0	0	18	0	0	18
PreventionGenetics, part of Exact Sciences	0	0	0	5	1	6
CeGaT Center for Human Genetics Tuebingen	0	0	2	3	0	5
Breakthrough Genomics, Breakthrough Genomics	0	0	0	1	3	4
OMIM	3	0	0	0	0	3
SIB Swiss Institute of Bioinformatics	0	2	1	0	0	3
Genome-Nilou Lab	0	0	0	0	3	3
GeneDx	0	0	0	0	2	2
Institute of Human Genetics, University of Leipzig Medical Center	1	1	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	1
3billion	0	1	0	0	0	1

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