ClinVar Miner

Variants with conflicting interpretations "benign" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "likely benign" from 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:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_004006.2(DMD):c.1554T>A (p.Asp518Glu) rs61733587
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.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_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.3(CAV3):c.-1G>A rs74377241

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