ClinVar Miner

Variants with conflicting interpretations "pathogenic" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "likely pathogenic" from NIHR Bioresource Rare Diseases, University of Cambridge

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: 5
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HGVS dbSNP
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
Single allele

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