ClinVar Miner

Variants in gene CYC1

See also:
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 not provided total
2 0 73 55 19 1 143

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic uncertain significance likely benign benign not provided total
not provided 1 45 51 19 1 112
not specified 0 37 5 3 0 45
Mitochondrial complex III deficiency nuclear type 6 2 3 1 3 0 9
CYC1-related disorder 0 0 5 2 0 7

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 38 42 9 0 89
GeneDx 1 11 13 13 0 38
Ambry Genetics 0 36 1 0 0 37
Breakthrough Genomics, Breakthrough Genomics 0 0 2 10 0 12
CeGaT Center for Human Genetics Tuebingen 0 0 7 2 0 9
PreventionGenetics, part of Exact Sciences 0 0 5 2 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 2 0 5
Genome-Nilou Lab 0 0 0 3 0 3
OMIM 2 0 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 1 1 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 0 0 2
Revvity Omics, Revvity 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 1 1

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