ClinVar Miner

Variants from ClinGen RASopathy Variant Curation Expert Panel with conflicting interpretations

Location: United States — Primary collection method: curation
Minimum review status of the submission from ClinGen RASopathy Variant Curation Expert Panel: Collection method of the submission from ClinGen RASopathy Variant Curation Expert Panel:
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
87 147 5 42 21 0 14 81

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 submitters
ClinGen RASopathy Variant Curation Expert Panel pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 7 5 0 0
likely pathogenic 3 0 7 0 0
uncertain significance 1 1 0 2 0
likely benign 0 0 15 0 7
benign 0 0 4 25 5

Submitter to submitter summary #

Total submitters: 9
Download table as spreadsheet
Submitter 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
Invitae 0 120 0 35 21 0 13 69
GeneDx 0 5 5 1 0 0 0 6
Database of Curated Mutations (DoCM) 0 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 27 0 2 0 0 0 2
Baylor Genetics 0 17 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 12 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 81
Download table as spreadsheet
HGVS dbSNP
NM_001354689.3(RAF1):c.1168+9_1168+21del rs727504451
NM_001354689.3(RAF1):c.1201G>A (p.Asp401Asn) rs559632360
NM_001354689.3(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_001354689.3(RAF1):c.1689G>C (p.Thr563=) rs5746244
NM_001354689.3(RAF1):c.1728+4A>G rs771344560
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.212A>G (p.Asn71Ser) rs184022679
NM_001354689.3(RAF1):c.581+4A>G rs201776526
NM_001354689.3(RAF1):c.639T>C (p.Thr213=) rs397516823
NM_001354689.3(RAF1):c.66T>G (p.Phe22Leu) rs397516824
NM_001354689.3(RAF1):c.680+6T>C rs371846795
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_001354689.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_001354689.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_001354689.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_001354689.3(RAF1):c.94A>G (p.Ile32Val) rs372738063
NM_001354689.3(RAF1):c.967A>G (p.Thr323Ala) rs775898894
NM_001354689.3(RAF1):c.995T>C (p.Val332Ala) rs370243307
NM_001374258.1(BRAF):c.1452G>A (p.Arg484=) rs56101602
NM_001374258.1(BRAF):c.1503A>G (p.Gln501=) rs56216404
NM_001374258.1(BRAF):c.1511G>A (p.Gly504Glu) rs121913348
NM_001374258.1(BRAF):c.1715G>A (p.Cys572Tyr) rs397507479
NM_001374258.1(BRAF):c.2355A>G (p.Leu785=) rs56046546
NM_001374258.1(BRAF):c.622A>G (p.Ile208Val) rs727504571
NM_001374258.1(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_001374258.1(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_001374258.1(BRAF):c.92C>G (p.Ala31Gly) rs397516906
NM_002755.4(MAP2K1):c.1098T>C (p.Ala366=) rs200293968
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) rs140749690
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051
NM_002834.4(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.782T>A (p.Leu261His) rs765642157
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.5(PTPN11):c.333-3T>C rs146749153
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.5(PTPN11):c.526-8C>A rs184804143
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) rs545495379
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.6(BRAF):c.976A>G (p.Ile326Val) rs775040765
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) rs190222208
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.1772A>G (p.Asn591Ser) rs757213444
NM_005633.3(SOS1):c.2010G>C (p.Leu670Phe) rs200712930
NM_005633.3(SOS1):c.2156G>C (p.Gly719Ala) rs200794965
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844
NM_005633.3(SOS1):c.350T>G (p.Val117Gly) rs201085754
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.73C>T (p.Pro25Ser) rs139592595
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) rs754374236
NM_007373.3(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.4(SHOC2):c.1540+8C>T rs771283010
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_030662.3(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_030662.3(MAP2K2):c.546G>A (p.Ala182=) rs141402203
NM_030662.3(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837
NM_030662.3(MAP2K2):c.847G>T (p.Val283Leu) rs185999703
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=) rs144850779
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026

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