ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute and "likely pathogenic" from Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum review status of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute: Collection method of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00002
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470

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