ClinVar Miner

Variants with conflicting interpretations studied for Primary ciliary dyskinesia 3

Coded as:
Minimum review status of the submission for Primary ciliary dyskinesia 3: Collection method of the submission for Primary ciliary dyskinesia 3:
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
731 116 0 22 11 0 7 37

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
Primary ciliary dyskinesia 3 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 4 0 0
likely pathogenic 9 0 6 0 0
uncertain significance 4 6 0 10 1
likely benign 0 0 10 0 13
benign 0 0 1 13 0

Condition to condition summary #

Total conditions: 1
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
Primary ciliary dyskinesia 3 731 116 0 22 11 0 7 37

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile) rs17263496 0.10451
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167 0.01663
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met) rs61747516 0.01505
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val) rs16902880 0.01472
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886 0.01470
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=) rs146191243 0.01011
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=) rs34671383 0.00895
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176 0.00831
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=) rs35963491 0.00809
NM_001369.3(DNAH5):c.6579+6A>G rs141389162 0.00798
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967 0.00563
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667 0.00277
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00253
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) rs149654950 0.00124
NM_001369.3(DNAH5):c.1644+12A>G rs201116549 0.00106
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_001369.3(DNAH5):c.11570+124G>C rs543104462 0.00057
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00040
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=) rs199951976 0.00010
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00006
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160 0.00001
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln) rs1182948401 0.00001
NM_001369.3(DNAH5):c.1090-8T>C rs16902950
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs) rs1436141222
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530

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