ClinVar Miner

Variants studied for Familial melanoma

Coded as:
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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
102 33 1010 552 21 1 1715

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDKN2A 94 33 538 206 14 0 881
CDK4 2 0 242 175 3 0 422
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
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 100 30 1010 552 21 0 1713
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 6 0 0 0 0 16
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

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