A 30-variant ClinVar spot check, run offline

#8
by birinets - opened

Thanks for releasing Carbon-X with open weights. We ran a small independent check and are sharing it in case it's useful, and to be corrected if we used the model wrongly.

  • 30 ClinVar missense SNVs with review status "reviewed by expert panel", 15 pathogenic and 15 benign, queried on 22 Oct 2026.
  • Revision 1fac52c, full BF16 weights (hashes checked), Docker, CPU only, no network. Your chat template with enable_thinking=False, greedy decoding, at most 60 new tokens. The card's Reference / Variant layout plus one line with the gene, strand, coordinate and change. We asked for one word (benign or pathogenic) and one sentence, where the card's example asks the model to explain its reasoning. The full prompts are in the dataset.
  • Written answers: 14/30 (47%, Wilson 95% 30–64%). DNA-only likelihood with your carbon.py compare: AUROC 0.73 (bootstrap 95% 0.52–0.92); 16/30 at a zero threshold fixed beforehand.
  • In 13 of the 30 answers, the base change named matches neither strand of the one given.
  • None of the 30 appear in HuggingFaceBio/clinvar-vep.
  • Data, prompts and every answer: https://huggingface.co/datasets/Indagaai/carbon-x-clinvar-30

Is this the prompt format you recommend for variant-effect questions? Our window was 1,001 bases. If a longer window or a different question works better, we'll rerun with yours and post both results.

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