ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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
45 73 0 25 29 4 1 59

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 risk factor other
uncertain significance 1 0 19 6 0 0
likely benign 0 4 0 6 0 0
benign 0 0 19 0 0 1
other 0 0 1 0 2 0

All variants with conflicting interpretations #

Total variants: 59
Download table as spreadsheet
HGVS dbSNP
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=) rs377763336
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) rs766756026
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) rs748912340
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_004006.2(DMD):c.1554T>A (p.Asp518Glu) rs61733587
NM_004006.2(DMD):c.1731A>T (p.Glu577Asp) rs150199251
NM_004006.2(DMD):c.2291A>G (p.Asn764Ser) rs199588981
NM_004006.2(DMD):c.2824A>G (p.Met942Val) rs371648742
NM_004006.2(DMD):c.2827C>T (p.Arg943Cys) rs199986217
NM_004006.2(DMD):c.4529A>G (p.Lys1510Arg) rs72468638
NM_004006.2(DMD):c.7323T>C (p.Thr2441=) rs201919981
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_020433.4(JPH2):c.1380G>A (p.Ala460=) rs531877510
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.3(CAV3):c.-1G>A rs74377241
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.