Minor technical detail - SNP vs. SNV

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    • Type: Change Request
    • Resolution: Persuasive
    • Priority: Medium
    • Genomics Reporting (FHIR)
    • STU3
    • Clinical Genomics
    • (profiles) [deprecated]
    • 1.1.1
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      Existing wording: (Single Nucleotide Polymorphisms or SNPs)

      Proposed wording: (Single Nucleotide Variations or SNVs)

      Rationale: SNPs and SNVs aren't the same. SNPs are common polymorphisms, seen in the population, whereas SNV refers to a patient's point mutation irrespective of population frequency.

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      Existing wording: (Single Nucleotide Polymorphisms or SNPs) Proposed wording: (Single Nucleotide Variations or SNVs) Rationale: SNPs and SNVs aren't the same. SNPs are common polymorphisms, seen in the population, whereas SNV refers to a patient's point mutation irrespective of population frequency.
    • Bob M / Clem : 19-0-0
    • Correction
    • Non-substantive

      Existing wording: (Single Nucleotide Polymorphisms or SNPs)

      Proposed wording: (Single Nucleotide Variations or SNVs)

      Rationale: SNPs and SNVs aren't the same. SNPs are common polymorphisms, seen in the population, whereas SNV refers to a patient's point mutation irrespective of population frequency.

            Assignee:
            Unassigned
            Reporter:
            Bob Dolin
            Watchers:
            1 Start watching this issue

              Created:
              Updated:
              Resolved: