Pathogenicity

Class 5Pathogenic i.e. Posterior probability > 0.99; would offer predictive testing based on this finding, if appropriate.
Class 4Likely pathogenic i.e. 0.90 < posterior probability ≤ 0.99; likely to be causal but evidence not conclusive, would curtail other diagnostic investigations and would seek additional confirmatory evidence before offering predictive testing.
Class 3Uncertain significance i.e. 0.10 ≤ posterior probability ≤ 0.90; insufficient or conflicting evidence to determine whether this is a causal or benign variant.
Class 2Likely benign i.e. 0.001 ≤ posterior probability < 0.10; unlikely to be causal.
Class 1Benign i.e. posterior probability < 0.001; strong evidence that the variant is not pathogenic.

Contribution

FullVariant fully explains the patient's whole phenotype (for autosomal recessive disorders, please use full for each variant in a compound heterozygote)
PartialVariant fully explains part of the patient's phenotype, e.g. homozygous del35G in GJB2 in a patient with microcephaly, VSD & deafness, or partially explains a phenotype, e.g. homozygous del35G inGJB2 in a patient with deafness whose other variant is a definitively pathogenic heterozygous variant in MITF (Waardenburg syndrome 2A)
UncertainContribution to patient's phenotype is unknown
NoneVariant has no discernible contribution to patient's phenotype