ClinVar Miner

Variants with conflicting interpretations studied for Osteogenesis Imperfecta, Recessive

Coded as:
Minimum review status of the submission for Osteogenesis Imperfecta, Recessive: 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
45 16 0 11 24 0 0 35

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 likely benign benign
uncertain significance 9 16
likely benign 0 11

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
not specified 0 4 0 5 15 0 0 20
not provided 0 12 0 8 9 0 0 17
P3H1-related condition 0 1 0 1 4 0 0 5
Pulmonary Surfactant Metabolism Dysfunction, Dominant 0 8 0 4 0 0 0 4

All variants with conflicting interpretations #

Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn) rs4715 0.20729
NM_001317778.2(SFTPC):c.*173C>T rs1126931 0.14333
NM_002615.6(SERPINF1):c.-86C>A rs9913583 0.06657
NM_003018.3(SFTPC):c.-134G>C rs28438700 0.06596
NM_022356.4(P3H1):c.*77C>T rs13871 0.06035
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile) rs11581921 0.05897
NM_001317778.2(SFTPC):c.201+14G>A rs8192327 0.05091
NM_000942.4(PPIB):c.-171C>T rs112481305 0.04313
NM_000942.4(PPIB):c.-181G>A rs113066141 0.04306
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) rs55716016 0.04262
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) rs61746642 0.01592
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) rs61100157 0.01581
NM_022356.4(P3H1):c.1569+3A>G rs76871760 0.01579
NM_022356.4(P3H1):c.1812C>T (p.Pro604=) rs34809608 0.01577
NM_022356.4(P3H1):c.978C>T (p.Thr326=) rs74070022 0.01251
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_006129.5(BMP1):c.-15C>G rs373839736 0.00814
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_022356.4(P3H1):c.-45C>T rs183564323 0.00663
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp) rs115108794 0.00209
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_022356.4(P3H1):c.1720+4G>A rs371232413 0.00031
NM_022356.4(P3H1):c.693G>A (p.Ala231=) rs149113630 0.00027
NM_022356.4(P3H1):c.1428C>T (p.Gly476=) rs141786883 0.00022
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_022356.4(P3H1):c.1626G>A (p.Thr542=) rs577059613 0.00007
NM_022356.4(P3H1):c.1620C>T (p.Asn540=) rs140334418 0.00002
NM_000942.5(PPIB):c.*204dup rs202080377
NM_001173467.3(SP7):c.-47-15dup rs886049660
NM_001199.3(BMP1):c.-263_-260GGAG[4] rs750344454
NM_001235.5(SERPINH1):c.346C>A (p.Arg116Ser) rs200265134
NM_021939.4(FKBP10):c.1256+17dup rs55720039
NM_022356.4(P3H1):c.2055+13C>G rs76628300

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