ClinVar Miner

Variants with conflicting interpretations between Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital and Illumina Laboratory Services,Illumina

Minimum review status of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital:
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 34 0 1 26 0 12 38

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 likely benign benign
pathogenic 0 4 5 2
likely pathogenic 0 1 0 2
uncertain significance 1 0 15 10
likely benign 0 1 0 1
benign 0 1 0 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
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_000348.4(SRD5A2):c.*43G>A rs28383082 0.00951
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00847
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000 0.00096
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_005149.3(TBX19):c.204-3T>C rs200043223 0.00069
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572 0.00061
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00038
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00019
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00016
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys) rs77655188 0.00015
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00010
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00010
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00006
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp) rs376970816 0.00005
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys) rs776478343 0.00004
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424 0.00003
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612

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