ClinVar Miner

Variants with conflicting interpretations between Revvity Omics, Revvity and Genomic Research Center, Shahid Beheshti University of Medical Sciences

Minimum review status of the submission from Revvity Omics, Revvity: Collection method of the submission from Revvity Omics, Revvity:
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
113 65 0 17 2 0 15 34

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.

pathogenic likely pathogenic uncertain significance benign
pathogenic 0 10 4 0
likely pathogenic 7 0 4 1
uncertain significance 2 4 0 0
likely benign 0 0 2 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448 0.00009
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His) rs138626345 0.00004
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs) rs1553241079 0.00004
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) rs745656120 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe) rs370050799 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val) rs1555256440
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs) rs1488690709

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