ClinVar Miner

Variants studied for Hereditary nonpolyposis colorectal neoplasms

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
3329 384 8515 6391 1004 2 19620

Gene and significance breakdown #

Total genes and gene combinations: 29
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MSH6 1071 76 3044 2343 281 0 6815
MSH2 872 127 1987 1703 341 1 5029
PMS2 505 56 2044 1193 153 0 3950
MLH1 769 120 1364 1116 220 0 3587
LOC129933707, MSH6 3 3 22 34 5 0 67
EPCAM 18 0 12 0 0 0 30
EPCAM, MSH2 19 0 7 0 0 0 26
AIMP2, PMS2 11 0 7 0 0 0 18
EPCAM, LOC129933695, MIR559, MSH2 14 0 3 0 0 0 17
EPM2AIP1, MLH1 9 0 4 0 0 0 13
EPCAM, MIR559 7 0 3 0 0 0 10
EPM2AIP1, LOC129936471, MLH1 8 0 2 0 0 0 10
FBXO11, MSH6 3 0 3 1 3 0 10
LOC129933707, LOC129933708, MSH6 5 1 3 0 0 0 9
LOC129997916, PMS2 4 0 4 0 1 0 9
EPCAM, LOC129933695, MSH2 2 0 1 0 0 0 3
FBXO11, KCNK12, MSH2, MSH2-OT1, MSH6 1 0 2 0 0 0 3
ABCG5, ABCG8, ARHGEF33, ATL2, ATP6V1E2, BCYRN1, CALM2, CAMKMT, CDKL4, COX7A2L, CRIPT, CYP1B1, DHX57, DYNC2LI1, EML4, EPAS1, EPCAM, GALM, GEMIN6, HAAO, HNRNPLL, KCNG3, LINC02898, LRPPRC, MAP4K3, MCFD2, MORN2, MSH2, MTA3, OXER1, PIGF, PKDCC, PLEKHH2, PPM1B, PREPL, PRKCE, RHOQ, RMDN2, SIX2, SIX3, SLC3A1, SLC8A1, SOCS5, SOS1, SOS1-IT1, SRBD1, SRSF7, STPG4, THADA, THUMPD2, TMEM178A, TMEM247, TTC7A, ZFP36L2 1 0 1 0 0 0 2
AIMP2, EIF2AK1, PMS2 1 0 1 0 0 0 2
BCYRN1, EPCAM, MSH2 2 0 0 0 0 0 2
CCZ1, OCM, PMS2, RSPH10B 2 0 0 0 0 0 2
APRG1, GOLGA4, ITGA9, LRRFIP2, MLH1 1 0 0 0 0 0 1
EPCAM, KCNK12, LOC122757938, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, MIR559, MSH2, MSH2-OT1, MSH6 0 0 1 0 0 0 1
EPM2AIP1, MLH1, TRANK1 1 0 0 0 0 0 1
LOC129933695, MSH2 0 1 0 0 0 0 1
LOC129936471, MLH1 0 0 1 0 0 0 1
LRRFIP2, MLH1 1 0 0 0 0 0 1
MLH3 0 0 0 0 0 1 1
PMS1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3327 380 8514 6390 1004 0 19613
Laboratorio De Regulación De La Expresión Génica Y Genómica De Cáncer, Departamento De Genética, Facultad De Medicina, Udelar 1 2 0 1 0 0 4
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1

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