ClinVar Miner

Variants with conflicting interpretations studied for Dyskeratosis Congenita, Recessive

Coded as:
Minimum review status of the submission for Dyskeratosis Congenita, Recessive: Y axis collection method of the submission for Dyskeratosis Congenita, Recessive:
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
131 36 0 30 16 1 3 45

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, Recessive pathogenic uncertain significance likely benign benign risk factor
uncertain significance 0 0 9 6 0
likely benign 2 3 0 24 1
benign 1 0 6 0 0

Condition to condition summary #

Total conditions: 12
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
not specified 0 24 0 13 8 0 0 20
Dyskeratosis congenita 0 3 0 9 8 0 0 17
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 11 0 12 2 0 0 14
Aplastic anemia 0 33 0 0 0 0 3 3
Andermann syndrome 0 2 0 2 0 0 0 2
Dyskeratosis congenita autosomal recessive 1 0 0 0 1 1 0 0 2
Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9 0 0 0 0 1 0 0 1
Dyskeratosis congenita, autosomal recessive, 4 0 0 0 0 0 0 1 1
Leukemia, acute myeloid, susceptibility to 0 0 0 0 0 1 0 1
Li-Fraumeni syndrome 0 4 0 1 0 0 0 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 0 0 0 0 0 0 1 1
not provided 0 5 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_017838.3(NHP2):c.160+10A>T rs376220034
NM_017838.3(NHP2):c.160+11C>T rs201274409
NM_017838.3(NHP2):c.351C>T (p.Ala117=) rs115334254
NM_018081.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213
NM_018081.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282
NM_018081.2(WRAP53):c.450C>T (p.Phe150=) rs2287498
NM_018081.2(WRAP53):c.936C>T (p.Cys312=) rs73248508
NM_018648.3(NOP10):c.*136T>C rs3063
NM_018648.3(NOP10):c.34G>C (p.Asp12His) rs146261631
NM_018648.3(NOP10):c.55-9C>T rs72720799
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.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.2160C>T (p.Thr720=) rs3027235
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238
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.3013A>G (p.Ile1005Val) rs3826543
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.663T>C (p.Gly221=) rs138725914
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939
NM_133647.1(SLC12A6):c.-143G>A rs73374490
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.1323_1325delGGA (p.Glu441del) rs377639087
NM_198253.2(TERT):c.1659C>T (p.Val553=) rs35809415
NM_198253.2(TERT):c.1812A>G (p.Ala604=) rs33959226
NM_198253.2(TERT):c.1849C>T (p.Leu617=) rs140951453
NM_198253.2(TERT):c.1950+10C>T rs33948291
NM_198253.2(TERT):c.2383-15C>T rs574645600
NM_198253.2(TERT):c.2391C>G (p.Ser797=) rs377216965
NM_198253.2(TERT):c.2517G>A (p.Thr839=) rs140124989
NM_198253.2(TERT):c.2520G>A (p.Leu840=) rs144310369
NM_198253.2(TERT):c.2654+10G>A rs375473823
NM_198253.2(TERT):c.2775C>T (p.His925=) rs34528119
NM_198253.2(TERT):c.3105C>T (p.Val1035=) rs181612536
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181

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