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#### Provide the command used or report the bug here
In cases of variants getting InterVar as a call, when there is both pathogenic calls (PVS1, PS, PM, PP) and benign calls (BA1, BS, BP) it shoul…
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貼吧活動:(請查閱 [SARS-CoV-2 Timeline by 2020.02.21](https://github.com/agorahub/_meta/blob/agoran/theagora/sari/Memorandum_2020-02-21_SARS-CoV-2-Timeline_Nathan.pdf?raw=true), by Nathan :cloud: )
- Colla…
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**Is your feature request related to a problem? Please describe.**
The analyst team would like to request an update to the colors used for the in silico scores based on new guidelines from ClinGen.
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#### Provide the command used or report the bug here
For variants that doesn't have ClinVar and taking InterVar call, InterVar is calling Pathogenic, but gets downgraded to Likely_pathogenic in fin…
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I'd like to request a term for neurodegeneration, childhood-onset, with brain atrophy.
OMIM: https://omim.org/entry/617672
Potential definition: Neurodegeneration, childhood-onset, with brain at…
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Update the following URL to point to the GitHub repository of
the package you wish to submit to _Bioconductor_
- Repository: https://github.com/mtmorgan/AlphaMissense
Confirm the following by e…
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**Term to split:**
MONDO:0010204 'lysosomal acid lipase deficiency'
**Name for new terms:** Note - when a term should be split, there should be 2+ new terms. Please list the new labels below.
1.…
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#### Provide the command used or report the bug here
For variants that doesn't have ClinVar and taking InterVar call, InterVar is calling Pathogenic, but gets downgraded to Likely_pathogenic in fin…
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#### Provide the command used or report the bug here
1-149784224-C-T
This variant has final_call pathogenic when criterion is na.
InterVar: Pathogenic PVS1=1 PS=[0, 0, 0, 0, 0] PM=[0, 0, 0, 0, 0…
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#### Provide the command used or report the bug here
Variants that have no ClinVar call, and the reasoning for call is InterVar
InterVar calls it Pathogenic, and final output is Likely_pathogenic
…