ClinVar Miner

Variants with conflicting interpretations studied for Dyskeratosis congenita

Coded as:
Minimum review status of the submission for Dyskeratosis congenita: Y axis collection method of the submission for Dyskeratosis congenita:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
123 23 1 35 11 0 4 47

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Dyskeratosis congenita pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 3 0 0 0
likely pathogenic 6 0 1 0 1
uncertain significance 1 1 0 0 0
likely benign 0 0 4 0 0
benign 1 0 7 27 0

Condition to condition summary #

Total conditions: 18
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Dyskeratosis Congenita, Recessive 0 3 0 9 8 0 0 17
not specified 0 14 0 9 3 0 0 11
Dyskeratosis Congenita, Dominant 0 2 0 6 0 0 0 6
Revesz syndrome 0 2 0 6 0 0 0 6
Dyskeratosis congenita X-linked 0 0 1 3 0 0 1 5
Dyskeratosis congenita, autosomal recessive, 5 0 1 0 4 0 0 0 4
not provided 0 6 0 3 0 0 1 4
Idiopathic fibrosing alveolitis, chronic form 0 2 0 2 0 0 1 3
Cerebroretinal microangiopathy with calcifications and cysts 1 0 10 0 2 0 0 0 2
Aplastic anemia 0 0 0 0 0 0 1 1
Cerebroretinal microangiopathy with calcifications and cysts 0 0 0 1 0 0 0 1
Dyskeratosis congenita 192 0 0 1 0 0 0 1
Dyskeratosis congenita autosomal dominant 0 0 0 0 0 0 1 1
Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 0 0 1 1
Dyskeratosis congenita, autosomal dominant, 4 0 0 0 1 0 0 0 1
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 0 1 0 1 0 0 0 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 0 0 1 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_001099274.1(TINF2):c.400-9C>T rs201087708
NM_001099274.2(TINF2):c.1092G>A (p.Leu364=) rs184422577
NM_001099274.2(TINF2):c.1236C>T (p.Asn412=) rs117234138
NM_001099274.2(TINF2):c.359A>G (p.Gln120Arg) rs189265179
NM_001099274.2(TINF2):c.734C>A (p.Ser245Tyr) rs142777869
NM_001099274.2(TINF2):c.74G>C (p.Gly25Ala) rs202093758
NM_001099274.2(TINF2):c.771C>T (p.His257=) rs75124018
NM_001363.4(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.4(DKC1):c.109_111delCTT (p.Leu37del) rs137854489
NM_001363.4(DKC1):c.1512_1514dupGAA (p.Lys505_Ala506insLys) rs782576893
NM_001363.4(DKC1):c.838A>C (p.Ser280Arg) rs146700772
NM_001363.5(DKC1):c.1512_1514delGAA (p.Lys505del) rs782576893
NM_016434.3(RTEL1):c.1482-1G>A rs863225129
NM_016434.3(RTEL1):c.2413+1G>C rs776744306
NM_017838.3(NHP2):c.160+10A>T rs376220034
NM_017838.3(NHP2):c.302G>A (p.Arg101Gln) rs145890370
NM_017838.3(NHP2):c.351C>T (p.Ala117=) rs115334254
NM_017838.3(NHP2):c.352G>A (p.Ala118Thr) rs139588879
NM_025099.5(CTC1):c.13C>T (p.Arg5Trp) rs201280372
NM_025099.5(CTC1):c.1720C>T (p.Pro574Ser) rs200440641
NM_025099.5(CTC1):c.2954_2956delGTT (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319
NM_025099.6(CTC1):c.1307G>A (p.Arg436His) rs75790638
NM_025099.6(CTC1):c.1383G>A (p.Gln461=) rs145192682
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly) rs747887601
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025099.6(CTC1):c.2973T>C (p.Tyr991=) rs62637613
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242
NM_025099.6(CTC1):c.3591C>G (p.Ser1197=) rs115990839
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859
NM_025099.6(CTC1):c.477G>T (p.Leu159=) rs200658590
NM_025099.6(CTC1):c.663T>C (p.Gly221=) rs138725914
NM_025099.6(CTC1):c.695G>A (p.Arg232Gln) rs201592575
NM_032957.4(RTEL1):c.1548G>T (p.Met516Ile) rs370343781
NM_032957.4(RTEL1):c.2941C>T (p.Arg981Trp) rs398123018
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
RTEL1:c.2402G>A (p.Arg801His) rs201540674

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