ClinVar Miner

Variants with conflicting interpretations "benign" from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute and "likely benign" from Eurofins Ntd Llc (ga)

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: 6
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130

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