ClinVar Miner

Variants with conflicting interpretations between Eurofins NTD LLC (GA) and University of Washington Center for Mendelian Genomics, University of Washington

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
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
0 11 0 34 3 1 21 57

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.

likely pathogenic uncertain significance association
pathogenic 34 0 1
likely pathogenic 0 0 1
uncertain significance 17 0 1
likely benign 2 0 1
benign 4 3 1
other 1 0 1

All variants with conflicting interpretations #

Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00867
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00608
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00338
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00137
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00128
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00099
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00080
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00057
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00032
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00016
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) rs532329866 0.00015
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00006
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_019109.5(ALG1):c.1072G>C (p.Gly358Arg) rs886042742 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00003
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00003
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00003
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_019109.5(ALG1):c.1187+1G>A rs374928784 0.00002
NM_019109.5(ALG1):c.1188-2A>G rs794727073 0.00002
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836 0.00001
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096 0.00001
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter) rs1553709881
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_005045.4(RELN):c.8489+4_8489+7del rs794727753
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) rs794726944
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter) rs752922461
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
Single allele

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