ClinVar Miner

Variants studied for Familial melanoma

Coded as:
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
99 32 1006 552 21 1 1708

Gene and significance breakdown #

Total genes and gene combinations: 14
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDKN2A 91 32 536 206 14 0 876
CDK4 2 0 240 175 3 0 420
CDK4, TSPAN31 0 0 148 121 1 0 270
CDK4, LOC130008148 0 0 53 30 0 0 83
CDKN2A, LOC130001603 2 0 17 6 3 0 28
CDK4, MIR6759, TSPAN31 0 0 2 14 0 0 16
CDKN2A, CDKN2B 1 0 4 0 0 0 5
CDKN2A, LOC130001603, LOC130001604, LOC130001605 1 0 3 0 0 0 4
AGAP2, ARHGAP9, ARHGEF25, B4GALNT1, CDK4, CYP27B1, DCTN2, DDIT3, DTX3, EEF1AKMT3, GLI1, INHBC, INHBE, KIF5A, LRP1, MARCHF9, MARS1, MBD6, METTL1, MIR616, NDUFA4L2, NXPH4, OS9, PIP4K2C, R3HDM2, SHMT2, STAC3, TSFM, TSPAN31 0 0 1 0 0 0 1
BAP1, DNAH1 1 0 0 0 0 0 1
CDK4, CYP27B1, MARCHF9 0 0 1 0 0 0 1
CDK4, LOC130008148, MIR6759, TSPAN31 0 0 1 0 0 0 1
CDKN2A, LOC130001603, LOC130001604 1 0 0 0 0 0 1
TP53 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 5
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 97 30 1006 552 21 0 1706
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 5 0 0 0 0 15
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.