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New term request alpha-N-acetylglucosaminidase low in leukocytes or cultured fibroblasts (f382): N-acetyl-alpha-D-glucosaminidase
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## Problem Statement
The VRS standard [submitted a proposal](https://vr-spec.readthedocs.io/en/1.0/appendices/ga4gh_identifiers.html) to the GA4GH Steering Committee to approve the use of the `ga4gh`…
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## Describe the issue
A clear and concise description of what the bug is.
## Additional information
Please fill in the following sections to help us find the source of your issue as quickly as po…
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**Describe the bug**
I use custom search to screen our cohort for interesting variants in candidate genes that come up in various settings. Attempting the search linked below (any affected, coding va…
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As discussed on 9/5 Broad ClinGen Weekly meeting
Update the "VCEP Curated Variants Calculations April 2022"
Ask: The goal is to compare the overall classification in ClinVar PRIOR to a ClinGen …
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ClinVar has announced changes to their XML to better support somatic variants in fall 2023, though support for the current format should continue at least through the end of the year. See [here](https…
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**Is your feature request related to a problem? Please describe.**
After the ACMG criteria have been published many local labs and groups have started to create alternative ways of using them. On…
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Analisando com a equipe de marcação e com a equipe de desenvolvimento concluirmos que a tag ``, pode conter conteúdos variados, ex.:
- `1`
- `1 (suppl)`
- `1 (suppl.)`
- `1 suppl`
Reparem que esse…
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**Preferred term label:**
Aromatic L-Amino Acid Decarboxylase enzyme low in plasma
**Synonyms**
AADC
**Definition (free text, please give PubMed ID)**
**Parent term (use hpo.jax.org/app)*…
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**Describe the bug**
No likely pathogenic variants are shown (none are returned by the annonars API). It is not completely clear whether this is a bug in clinvar-this or annonars.
**To Reprodu…