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GKPilot ClinVar SCV missing subject variation (externally reported) #729

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larrybabb opened this issue Jan 8, 2023 · 4 comments
Closed

GKPilot ClinVar SCV missing subject variation (externally reported) #729

larrybabb opened this issue Jan 8, 2023 · 4 comments
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@theferrit32
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@larrybabb
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@theferrit32 The Epic team noticed some missing subject variations in the gk pilot data. I took a quic look and it seemed like a bug. Please let me know if what you find.

Here's the email I received....

Mrinal Thomas (Epic) Jan 4, 2023 11:39a ET
We noticed some of Germline Pathogenicity Statements point to a missing subject variation (cgterms:VariationDescriptor_7955.2022-06-26).
@larrybabb larrybabb added the bug Something isn't working label Jan 8, 2023
@theferrit32
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Should look at whether it's related to this: #748

@theferrit32
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Running clinvar release 2023-04-10 through and will verify this variant is processed correctly.

@theferrit32
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Re-running 2023-04-10 release and will check the results for this record

@larrybabb
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@theferrit32 how's this coming along?

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