ClinVar Miner

Variants with conflicting interpretations studied for Noonan syndrome 9

Coded as:
Minimum review status of the submission for Noonan syndrome 9: Collection method of the submission for Noonan syndrome 9:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
1317 153 0 27 37 0 0 64

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
Noonan syndrome 9 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 32 5
likely benign 0 0 32 0 25
benign 0 0 5 25 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
Noonan syndrome 9 1317 153 0 27 37 0 0 64

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00524
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00416
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00044
NM_006939.4(SOS2):c.2162-10C>T rs375702667 0.00042
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994 0.00037
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871 0.00033
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728 0.00029
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136 0.00027
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser) rs142863840 0.00018
NM_006939.4(SOS2):c.3076-17A>T rs200184350 0.00016
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00015
NM_006939.4(SOS2):c.2057+19T>A rs544924513 0.00014
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864 0.00011
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro) rs141214900 0.00010
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878 0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805 0.00007
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys) rs148747022 0.00007
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128 0.00006
NM_006939.4(SOS2):c.2700C>T (p.Asp900=) rs369410641 0.00006
NM_006939.4(SOS2):c.2959-16A>G rs147830734 0.00006
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_006939.4(SOS2):c.13C>G (p.Pro5Ala) rs976486198 0.00004
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser) rs1391029692 0.00004
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145 0.00004
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr) rs935249167 0.00004
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg) rs569343105 0.00004
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu) rs770603835 0.00004
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys) rs375244948 0.00003
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg) rs759124324 0.00003
NM_006939.4(SOS2):c.2350C>T (p.Arg784Cys) rs760520078 0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser) rs139401491 0.00002
NM_006939.4(SOS2):c.364G>A (p.Val122Met) rs1208838203 0.00002
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr) rs201756168 0.00002
NM_006939.4(SOS2):c.1714G>A (p.Val572Ile) rs762733592 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.2161+10A>G rs201629454 0.00001
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly) rs779464455 0.00001
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958 0.00001
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser) rs779413196 0.00001
NM_006939.4(SOS2):c.374A>T (p.His125Leu) rs777300218 0.00001
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala) rs1344396759 0.00001
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser) rs780772018 0.00001
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His) rs200104745 0.00001
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu) rs865922330 0.00001
NM_006939.4(SOS2):c.3987A>C (p.Glu1329Asp) rs146527239 0.00001
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.2166A>T (p.Lys722Asn) rs769787486
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2217G>T (p.Lys739Asn) rs186110427
NM_006939.4(SOS2):c.2786-18_2786-17dup rs201957103
NM_006939.4(SOS2):c.3134A>G (p.His1045Arg)
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu) rs752525400
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln) rs58365465
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys) rs1595001710
NM_006939.4(SOS2):c.800T>G (p.Met267Arg) rs797045167

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