ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "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: 6
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HGVS dbSNP
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=) rs377763336
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355

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