ClinVar Miner

Variants with conflicting interpretations studied for Idiopathic fibrosing alveolitis, chronic form

Coded as:
Minimum review status of the submission for Idiopathic fibrosing alveolitis, chronic form: Y axis collection method of the submission for Idiopathic fibrosing alveolitis, chronic form:
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
18 54 8 20 9 1 7 39

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
Idiopathic fibrosing alveolitis, chronic form pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 8 3 2 0 0 0
uncertain significance 0 0 0 3 0 0
likely benign 3 0 5 0 13 1
benign 1 1 1 4 0 0

Condition to condition summary #

Total conditions: 15
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
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 11 0 12 3 0 1 16
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 0 0 6 0 0 0 1 7
not specified 0 21 0 5 3 0 0 7
Osteogenesis Imperfecta, Recessive 0 8 0 4 1 0 0 5
Aplastic anemia 0 33 0 0 1 0 3 4
Dyskeratosis congenita 0 2 0 2 0 0 1 3
not provided 0 3 2 0 1 0 0 3
Dyskeratosis congenita, autosomal dominant, 2 0 1 1 0 1 0 0 2
Dyskeratosis congenita, autosomal recessive, 5 0 1 0 1 0 0 1 2
Idiopathic fibrosing alveolitis, chronic form 107 2 2 0 0 0 0 2
Surfactant metabolism dysfunction, pulmonary, 2 0 0 0 0 1 0 1 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
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys) rs150273659
NM_003018.3(SFTPC):c.-134G>C rs28438700
NM_003018.4(SFTPC):c.*173C>T rs1126931
NM_003018.4(SFTPC):c.115G>T (p.Val39Leu) rs183533911
NM_003018.4(SFTPC):c.201+14G>A rs8192327
NM_003018.4(SFTPC):c.413C>A (p.Thr138Asn) rs4715
NM_003018.4(SFTPC):c.500G>A (p.Arg167Gln) rs34957318
NM_006129.4(BMP1):c.-126G>A rs527604798
NM_006129.5(BMP1):c.-15C>G rs373839736
NM_016434.3(RTEL1):c.1482-1G>A rs863225129
NM_016434.3(RTEL1):c.2413+1G>C rs776744306
NM_016434.3(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.1317_1319GGA[2] (p.Glu441del) rs377639087
NM_198253.2(TERT):c.164T>A (p.Leu55Gln) rs387907247
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.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.1950+10C>T rs33948291
NM_198253.2(TERT):c.219+1G>A rs199422309
NM_198253.2(TERT):c.2240del (p.Val747fs) rs199422300
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.2583-2A>C rs111576740
NM_198253.2(TERT):c.2594G>A (p.Arg865His) rs121918666
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.3150G>C (p.Lys1050Asn) rs373400596
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.3329C>T (p.Thr1110Met) rs199422306
NM_198253.2(TERT):c.430G>A (p.Val144Met) rs199422291
NM_198253.2(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181
NR_001566.1(TERC):n.98G>A rs199422268
RTEL1:c.2402G>A (p.Arg801His) rs201540674

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