annotate-variant-gene-impact-q1

Question

What is the clinical significance reported in the ClinVar database for the SPI1 variant represented by the HGVS notation NM_003120.3(SPI1):c.143-2A>C? Respond with only the correct cateogry. Answer in all lowercase.

Predicted answer

pathogenicMost likely answer for this question; not uniquely determined from submitted scores.

Domain

Genomics

Question style

Retrieval

An answer can be uniquely inferred for 54 of 100 questions from submitted scores. Green: correct · Red: incorrect. For questions without a uniquely determined answer: Blue: matches prediction · Orange: differs from prediction. These are inferred answer checks, not official per-question grades.