ClinVar Miner

Variants with conflicting interpretations studied for Osteogenesis Imperfecta, Recessive

Coded as:
Minimum review status of the submission for Osteogenesis Imperfecta, Recessive: Y axis collection method of the submission for Osteogenesis Imperfecta, 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
237 38 0 23 17 0 0 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
Osteogenesis Imperfecta, Recessive uncertain significance likely benign benign
uncertain significance 0 14 9
likely benign 1 0 23

Condition to condition summary #

Total conditions: 7
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 20 0 18 14 0 0 32
not provided 0 16 0 3 3 0 0 6
Idiopathic fibrosing alveolitis, chronic form 0 8 0 4 1 0 0 5
Pulmonary Surfactant Metabolism Dysfunction, Dominant 0 8 0 4 1 0 0 5
Osteogenesis imperfecta type 7 0 6 0 2 1 0 0 3
Osteogenesis imperfecta, type XI 0 0 0 1 1 0 0 2
Osteogenesis imperfecta, type VI 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_000942.4(PPIB):c.-171C>T rs112481305
NM_000942.4(PPIB):c.63C>A (p.Ser21=) rs4904
NM_001173467.2(SP7):c.-47-15dupC rs886049660
NM_001173467.3(SP7):c.864G>A (p.Leu288=) rs113295055
NM_001235.4(SERPINH1):c.-19C>T rs78910605
NM_001235.4(SERPINH1):c.267G>A (p.Thr89=) rs139127426
NM_001235.4(SERPINH1):c.721+9T>C rs138193444
NM_001235.4(SERPINH1):c.744C>T (p.Asp248=) rs61733248
NM_001235.4(SERPINH1):c.955-6C>A rs7105575
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665
NM_002615.7(SERPINF1):c.395C>G (p.Pro132Arg) rs1804145
NM_002615.7(SERPINF1):c.555G>A (p.Gln185=) rs34063250
NM_002615.7(SERPINF1):c.643+9G>A rs12103559
NM_003018.3(SFTPC):c.-134G>C rs28438700
NM_003018.4(SFTPC):c.*173C>T rs1126931
NM_003018.4(SFTPC):c.201+14G>A rs8192327
NM_003018.4(SFTPC):c.413C>A (p.Thr138Asn) rs4715
NM_006129.4(BMP1):c.-126G>A rs527604798
NM_006129.5(BMP1):c.-15C>G rs373839736
NM_006129.5(BMP1):c.1112G>A (p.Arg371His) rs145284541
NM_006129.5(BMP1):c.1766-5C>T rs76809016
NM_006129.5(BMP1):c.1770T>C (p.Ala590=) rs2229777
NM_006129.5(BMP1):c.2115C>T (p.Asp705=) rs61729094
NM_006129.5(BMP1):c.2155G>A (p.Val719Ile) rs11996036
NM_006129.5(BMP1):c.2205C>G (p.Leu735=) rs28710878
NM_006129.5(BMP1):c.2450T>C (p.Val817Ala) rs80019749
NM_006129.5(BMP1):c.2575+14T>C rs28374147
NM_006129.5(BMP1):c.2640C>A (p.Gly880=) rs77242743
NM_006129.5(BMP1):c.2724C>T (p.Thr908=) rs140092629
NM_006371.4(CRTAP):c.-35C>T rs567359532
NM_006371.4(CRTAP):c.558A>G (p.Ala186=) rs35357409
NM_006371.4(CRTAP):c.641T>C (p.Val214Ala) rs146124454
NM_006371.4(CRTAP):c.732C>T (p.Leu244=) rs149119710
NM_021939.3(FKBP10):c.1307T>C (p.Ile436Thr) rs61749879
NM_021939.3(FKBP10):c.1374G>A (p.Pro458=) rs201069033
NM_021939.3(FKBP10):c.1400-4C>G rs114199361
NM_021939.3(FKBP10):c.590A>G (p.Lys197Arg) rs34764749
NM_021939.3(FKBP10):c.732A>G (p.Thr244=) rs8078775
NM_024798.3(SNX22):c.*1569G>A rs369889089

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