ClinVar Miner

Variants studied for Dyskeratosis congenita

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 total
36 16 460 92 75 656

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CTC1 19 3 301 62 49 413
TINF2 2 0 58 11 11 82
DKC1 2 2 29 11 11 55
NHP2 0 0 27 3 2 32
CTC1, PFAS 1 0 12 2 0 15
RTEL1, RTEL1-TNFRSF6B 6 8 0 0 0 12
CTC1, TRI-AAT4-1 0 0 9 1 0 10
CTC1, TRS-AGA2-6 0 0 9 0 0 9
NHP2, RMND5B 0 0 6 1 2 9
CTC1, TRT-AGT1-2 0 0 6 0 0 6
TERT 3 3 0 0 0 6
PARN 3 0 0 0 0 3
ACADVL, ACAP1, ALOX12, ALOX12B, ALOX15B, ALOXE3, ASGR1, ASGR2, ATP1B2, AURKB, BCL6B, BORCS6, C17orf49, CD68, CHD3, CHRNB1, CLDN7, CLEC10A, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MIR195, MIR497HG, MPDU1, NAA38, NEURL4, NLGN2, PER1, PHF23, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 1
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35 0 0 1 0 0 1
B4GALT7, FAM153A, N4BP3, NHP2, PROP1, RMND5B 0 0 1 0 0 1
TGM1, TINF2 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 24 5 319 69 52 469
Illumina Clinical Services Laboratory,Illumina 0 0 157 23 36 216
Integrated Genetics/Laboratory Corporation of America 3 5 0 0 0 8
Genetic Services Laboratory, University of Chicago 3 4 0 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 2 0 0 0 3
Bone Marrow Failure laboratory,Queen Mary University London 3 0 0 0 0 3
Stem Cell Engineering Center,Hunan Guangxiu Hospital 3 0 0 0 0 3

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