ClinVar Miner

Variants with conflicting interpretations between Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute and Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum review status of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute: Collection method of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute:
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
86 102 0 32 8 1 1 42

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 benign benign
uncertain significance 1 7 1
likely benign 0 0 9
benign 0 23 0
risk factor 0 0 1

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00306
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300 0.00156
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter) rs140704891
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083

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