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Currenty, the user can only classify a variant according to the ACMG guidelines. However, for somatic variants it would be good to also have support for the [ClinGen-CGC-VICC Guidelines](https://pubme…
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As the ACMG/AMP guidelines and the VCI stand, variant classification is a categorical process. Groups are encouraged to move to a point system and with the impending release of a point-based classific…
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We currently use the AMP/ASCO/CAP and ACMG (Mendelian cancer predisposition) guidelines to harmonize the somatic and germline variant classification, respectively. Unfortunately, both the ACMG and AMP…
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As part of adding a Provisional Evidence subtile, we want to add a description to the [Allele Frequency Reference Sets Tile help section](https://brcaexchange.org/help#allele-frequency-reference-sets)…
e-t-k updated
4 months ago
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ClinGen and the experts that work on improving the ACMG Var Path guidelines have been considering a change to improve and clarify the term used between patient centric observations and variant centric…
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### Submitter Name
Grace Pendlebury
### Submitter Affiliation
Shariant / Australian Genomics
### Submitter Github Handle
_No response_
### Additional Submitter Details
Shariant is…
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When classifying variants in Scout the criteria are the same for all genes (but you can modify the strength of each criteria). ClinGen are publishing more and more gene-specific interpretations of the…
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...at least for candidate genes manually specified by name only; priority/evidence as in "5 star rating" or "not specified"/"little evidence"/"strong evidence" or [0..1] score
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In adopting SEPIO, ClinGen now creates EvidenceLine objects in their model. I propose we develop a type system for classifying these objects. This will provide an important level of interoperability …