ClinVar Miner

Variants with conflicting interpretations "benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "likely benign" from 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:
ClinVar version:
Total variants with conflicting interpretations: 37
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HGVS dbSNP
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.649A>G (p.Ser217Gly) rs138753870
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
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.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.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.4136C>T (p.Thr1379Met) rs145611185
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_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_033337.3(CAV3):c.-1G>A rs74377241
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_172056.2(KCNH2):c.568G>A (p.Ala190Thr) rs150817714

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