ClinVar Miner

Variants in gene MCM4

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 total
1 1 352 260 33 617

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 0 269 248 26 538
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 1 1 83 12 15 110
not specified 0 0 76 2 1 79
MCM4-related disorder 0 0 1 8 4 13
Microcephaly 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 262 244 22 529
Illumina Laboratory Services, Illumina 0 0 72 11 15 98
Ambry Genetics 0 0 74 2 0 76
Breakthrough Genomics, Breakthrough Genomics 0 0 7 6 7 20
PreventionGenetics, part of Exact Sciences 0 0 1 8 4 13
CeGaT Center for Human Genetics Tuebingen 1 0 3 3 1 8
GeneDx 0 0 5 0 0 5
Baylor Genetics 0 0 4 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 4 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 2 1 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 1 2
OMIM 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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