ClinVar Miner

Variants with conflicting interpretations "benign" from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute and "uncertain significance" from Department of Pathology and Laboratory Medicine, Sinai Health System

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_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])

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