ClinVar Miner

Variants in gene CHRNB4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
1 2 30 6 8 47

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 28 3 0 31
not provided 0 0 0 2 6 8
Amyotrophic lateral sclerosis 0 0 1 0 2 3
Frontotemporal dementia 0 2 0 0 0 2
Chronic obstructive pulmonary disease 1 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 1
Lung adenocarcinoma 0 0 1 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 28 3 0 31
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 1 5 6
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 4 4
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 1 0 2 3
Guerreiro-Bras Laboratory, Van Andel Institute 0 2 0 0 0 2
GeneDx 0 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 1
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 1 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 1
Dr Mariam's Lab, University of the Punjab 1 0 0 0 0 1

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