ClinVar Miner

Variants in gene CORO1A

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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
9 6 99 156 13 274

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Severe combined immunodeficiency due to CORO1A deficiency 9 3 78 149 13 249
Inborn genetic diseases 0 0 21 0 0 21
not provided 0 1 5 10 2 16
not specified 0 0 3 5 3 11
CORO1A-related disorder 0 0 0 8 2 10
Autism spectrum disorder 0 0 1 0 0 1
Severe combined immunodeficiency disease 0 1 0 0 0 1
Sinoatrial node disorder 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 7 3 76 148 13 247
Ambry Genetics 0 0 21 0 0 21
PreventionGenetics, part of Exact Sciences 0 0 0 8 2 10
Breakthrough Genomics, Breakthrough Genomics 0 0 2 5 2 9
GeneDx 0 0 1 5 1 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 3 1 1 6
CeGaT Center for Human Genetics Tuebingen 0 1 0 4 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 1 4
OMIM 3 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 1
Department of Legal Medicine, University of Toyama 0 1 0 0 0 1

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