"Unknown" for ClinVar origin

leexgh commented 4 years ago

Hi,

I found there are some variants that have an unknown in ClinVar origin. For example: https://myvariant.info/v1/variant/chr17%3Ag.7577538C%3ET In the ClinVar -> rcv ->

      {
        "accession": "RCV000235221",
        "clinical_significance": "Pathogenic",
        "conditions": {
          "identifiers": {
            "medgen": "CN517202"
          },
          "name": "not provided"
        },
        "last_evaluated": "2018-11-21",
        "number_submitters": 4,
        "origin": "unknown",
        "preferred_name": "NM_000546.6(TP53):c.743G>A (p.Arg248Gln)",
        "review_status": "criteria provided, multiple submitters, no conflicts"
      },

What does this unknown mean?

kevinxin90 commented 4 years ago

Hi @leexgh

I would refer you to the documentation from the source database ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/docs/properties/. As they mentioned, if refers to Variants that of unknown origin.

Other values of the origin fields could be germline, de novo, somatic, inherited, ...

Hope it answers your question.

Thanks!

leexgh commented 4 years ago

@kevinxin90 Thanks for your prompt reply, that helps!

biothings / myvariant.info

"Unknown" for ClinVar origin #105