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Related to #69 .
One of the modifiers for inheritance that the VCI uses is "Genetic Anticipation". It has an HPO code, and it descends directly from mode of inheritance. Genetic Anticipation i…
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Hello Veronique,
Hope you are doing great out there.
I have a strange observation for a variant.
Coordinates : 1_108190708_108194629_DEL_1
Length : -3921bp
It's a Homozygous deletion in my V…
Mkddb updated
3 years ago
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What are the values for this?
Is it something like:
Pathogenic Very Strong
Pathogenic Strong
...
Benign Strong
Not Applicable?
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Hi
I am trying to fit some protein AA variant data into the model and Baylors documents. I can make a protein simple allele document from our data but I am not certain I can always give the correct A…
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Platelet Disorders is now an approved VCEP. We need to add their guidelines to their affiliation file:
Name: ClinGen Platelet Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretat…
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Mitochondrial Diseases is now an approved VCEP. We need to add their guidelines to their affiliation file:
Name: ClinGen Mitochondrial Disease Nuclear and Mitochondrial Expert Panel Specifications to…
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Users tend to see VUS, benign, etc. and think of it as an assertion instead of a single piece of evidence. As soon as they see that, they assume it is the final assertion. It would better to say “N/A…
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Column names in clinvar submission file does not match column names in Clinvar submssion template needed to submit variants availible: https://www.ncbi.nlm.nih.gov/clinvar/docs/submit/.
[cases-200…
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`clinical_significance` is defined in 2 places in the JSON schema, and the enumeration of values is a subset of the [ACMG guidelines](https://www.ncbi.nlm.nih.gov/clinvar/docs/clinsig/). Some of the v…