-
**Is your feature request related to a problem? Please describe.**
Grading using the ACMG criteria and scheme is very useful. As also mentioned in #476, specific groups and labs have made their o…
-
### Name and Institution (Required)
Name: James East
Institution: Harvard (ACMG)
### Confirm you have reviewed the following documentation
- [x] [Support guidelines](https://hemco.readthedoc…
-
Good day @lgmgeo,
I'm trying to understand the AnnotSV output for [this gnomAD SV insertion](https://gnomad.broadinstitute.org/variant/INS_2_10274?dataset=gnomad_sv_r2_1). Based on the allele count…
-
Once the changes requested in https://github.com/clingen-data-model/clinvar-scv-curator-ext/issues/57 go through - the Non-contributory existing annotations should be mapped as follows
Previous…
-
In issue #2, there was a comment about the challenges of creating study groups, when we are already hard-pressed to get people to develop these specifications. While I believe everyone agrees in princ…
-
Hello,
I was wondering if it would be possible to alter the SpliceAI website to show users splicing predictions for cryptic splice sites regardless of whether or not there is a score change at that…
-
Hi,
Are you interested in reannotating SV_type column with `inversion/deletion/duplication/insertion`, not just `BND`?
https://github.com/walaj/svaba/issues/4
Best,
xiucz
-
Can we have a grey button next to the other 5 ACMG Classification Buttons (on the Var…
-
ACMG-klassning, Kan den göras mer levande/dynamisk i Scout. I riktlinjer för t.ex. mitokondriella varianter, McCormick et al., 2020, Specifications of the ACMG-AMP standards and guidelines for mitocho…
-
I've received an email with feedback from a test submission using the API (I guess there is still manual inspection when they see that a submission, even if it's a test one, returns error).
Reason …