ClinVar Miner

Variants in gene CDK4

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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 risk factor not provided total
1 4 114 66 8 2 3 180

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cutaneous melanoma 1 0 63 27 3 0 0 94
Hereditary cancer-predisposing syndrome 1 0 53 33 1 0 0 87
not provided 1 0 21 6 6 0 0 32
not specified 0 0 8 18 3 0 3 31
Cutaneous malignant melanoma 3 1 0 11 3 1 2 0 17
Cutaneous Malignant Melanoma, Dominant 0 0 6 1 0 0 0 7
Lung adenocarcinoma 0 4 0 0 0 0 0 4
Malignant melanoma of skin 0 4 0 0 0 0 0 4
Multiple myeloma 0 4 0 0 0 0 0 4
Cutaneous melanoma 0 1 0 0 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1 0 63 27 3 0 0 94
Ambry Genetics 0 0 52 31 1 0 0 84
GeneDx 1 0 15 19 4 0 0 39
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 9 1 3 0 0 13
Integrated Genetics/Laboratory Corporation of America 1 0 7 2 2 0 0 12
Counsyl 1 0 5 3 1 0 0 10
Illumina Clinical Services Laboratory,Illumina 0 0 6 1 0 0 0 7
PreventionGenetics 0 0 1 3 2 0 0 6
Mendelics 0 0 6 0 0 0 0 6
Database of Curated Mutations (DoCM) 0 4 0 0 0 0 0 4
True Health Diagnostics 0 0 1 3 0 0 0 4
ITMI 0 0 0 0 0 0 3 3
OMIM 0 0 0 0 0 2 0 2
GeneKor MSA 0 0 1 0 0 0 0 1
Color 1 0 0 0 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 1 0 0 0 1

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