Table 2 Modified ClinVar review status adapted for this Consensus Statement on PPGLs driver genes

From: Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

Original ClinVar classification

Modified classification

Number of gold stars

Description and review status

Evidence level

Specific applicability to PPGLs

None

No submitter provided an interpretation with assertion criteria (no assertion criteria provided), or no interpretation was provided (no assertion provided)

0

N/A

One

One submitter provided an interpretation with assertion criteria (criteria provided, single submitter) or multiple submitters provided assertion criteria but there are conflicting interpretations, in which case the independent values are enumerated for clinical significance (criteria provided, conflicting interpretations)

1

Single source (one published report)

Two

Two or more submitters providing assertion criteria provided the same interpretation (criteria provided, multiple submitters, no conflicts)

2

Two or more sources without functional validation

Three

Reviewed by expert panel

3

Two or more sources with some functional validation

Four

Practice guideline

4

Established evidence from: clinical, genetic, computational prediction, functional evidence and/or analysis of population frequency

  1. N/A, not applicable; PPGLs, phaeochromocytomas and/or paragangliomas.
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