ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
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 61 0 7 8 0 4 19

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 likely benign
pathogenic 0 0 1 0
likely pathogenic 6 0 0 0
uncertain significance 0 2 0 0
likely benign 1 0 5 0
benign 0 0 3 1

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00243
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00087
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848 0.00018
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00010
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00010
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00006
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941

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