ClinVar Miner

Variants with conflicting interpretations "likely benign" 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.297C>T (p.Pro99=) rs140245862
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668

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