ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "pathogenic" from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 8
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HGVS dbSNP
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026

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