ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
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
106 66 0 44 15 1 0 60

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 other
pathogenic 2 0 0 0 0
uncertain significance 0 0 0 1 1
likely benign 0 11 0 5 0
benign 0 3 37 0 0

All variants with conflicting interpretations #

Total variants: 60
Download table as spreadsheet
HGVS dbSNP
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=) rs772125105
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001103.3(ACTN2):c.744C>T (p.Tyr248=) rs749565466
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=) rs185569619
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207
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.41958A>G (p.Ala13986=) rs186699871
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185
NM_002474.3(MYH11):c.1502G>A (p.Arg501His) rs144244239
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_003238.5(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
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.2827C>T (p.Arg943Cys) rs199986217
NM_004006.2(DMD):c.4529A>G (p.Lys1510Arg) rs72468638
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4]) rs397516971
NM_005751.4(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633
NM_005751.4(AKAP9):c.80C>T (p.Ser27Leu) rs142401936
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751
NM_024422.6(DSC2):c.561T>C (p.Tyr187=)
NM_033337.3(CAV3):c.-1G>A rs74377241
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_172056.2(KCNH2):c.568G>A (p.Ala190Thr) rs150817714

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