Variants in gene COPB1 - 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	3	67	12	1	83

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not specified	0	0	64	1	0	65
not provided	0	0	0	11	1	12
Baralle-Macken syndrome	2	1	4	0	0	6
Cataract; Immunodeficiency; Microcephaly; Intellectual disability, severe	0	1	0	0	0	1
Cataract; Microcephaly; Intellectual disability, severe	0	1	0	0	0	1
Skeletal dysplasia; Short stature; Failure to thrive; Delayed speech and language development	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	0	0	64	1	0	65
CeGaT Center for Human Genetics Tuebingen	0	0	0	11	0	11
Baylor Genetics	0	1	2	0	0	3
OMIM	2	0	0	0	0	2
UCL Queen Square Institute of Neurology, University College London	0	2	0	0	0	2
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	0	1	1
Mendelics	0	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	0	0	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	1	0	0	1

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