ClinVar Miner

Variants studied for familial melanoma

Included ClinVar conditions (19):
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
234 80 2359 1308 365 24 10 4124

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
POT1 121 40 873 538 27 0 7 1585
CDKN2A 95 35 539 208 14 18 0 887
CDK4 2 0 254 200 129 2 0 493
MC1R 0 0 316 135 71 1 1 483
CDK4, TSPAN31 0 0 162 128 92 0 0 324
STK11 7 2 83 6 0 0 0 98
CDK4, LOC130008148 0 0 56 31 26 0 0 95
BRAF 2 2 9 23 1 0 0 37
TERT 0 1 19 9 2 0 0 31
CDKN2A, LOC130001603 2 0 17 7 3 1 0 28
CDK4, MIR6759, TSPAN31 0 0 2 21 0 0 0 23
LOC130062899, STK11 0 0 12 1 0 0 0 13
CDKN2A, CDKN2B 1 0 4 0 0 0 0 5
LOC110806263, TERT 1 0 3 0 0 1 0 5
CDKN2A, LOC130001603, LOC130001604, LOC130001605 1 0 3 0 0 0 0 4
BRAF, LOC126860202 0 0 2 1 0 0 0 3
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 0 1
BAP1, DNAH1 1 0 0 0 0 0 0 1
BRCA2 0 0 0 0 0 0 1 1
CDK4, CYP27B1, MARCHF9 0 0 1 0 0 0 0 1
CDK4, LOC130008148, MIR6759, TSPAN31 0 0 1 0 0 0 0 1
CDKN2A, LOC130001603, LOC130001604 1 0 0 0 0 0 0 1
FANCA, MC1R, SPIRE2, TCF25 0 0 1 0 0 0 0 1
KLC1, XRCC3 0 0 0 0 0 1 0 1
PTEN 0 0 1 0 0 0 0 1
TP53 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 209 64 2140 1192 83 0 0 3688
Myriad Genetics, Inc. 0 0 6 83 233 0 0 322
Illumina Laboratory Services, Illumina 0 0 94 38 57 0 0 189
Fulgent Genetics, Fulgent Genetics 4 4 54 46 4 0 0 112
Baylor Genetics 1 3 92 0 0 0 0 96
OMIM 18 0 0 0 0 24 0 42
Mendelics 2 0 15 4 2 0 0 23
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 3 14 0 0 0 0 18
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 6 0 0 0 0 0 16
Counsyl 1 0 8 3 2 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 4 2 0 0 0 8
MGZ Medical Genetics Center 2 1 2 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
GeneReviews 0 0 0 0 0 0 3 3
Center of Human Genetics, Hôpital Erasme 0 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 2 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 0 1
Division of Medical Oncology, Washington University at Saint Louis 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Department of Dermatology, Medical University of Vienna 1 0 0 0 0 0 0 1

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