ClinVar Miner

Variants with conflicting interpretations "uncertain significance" 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.2870C>G (p.Thr957Ser) rs193922380
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
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.40576GAA[3] (p.Glu13529del) rs727504199
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_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.7323T>C (p.Thr2441=) rs201919981
NM_020433.4(JPH2):c.1380G>A (p.Ala460=) rs531877510
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078
NM_172056.2(KCNH2):c.51C>G (p.Thr17=) rs144338227

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