ClinVar Database Navigator FAQs

Question 1

What do the star ratings in ClinVar mean?

Accepted Answer

Star ratings indicate the review status and level of confidence in a variant's classification; 4 stars represent practice guidelines, while 0 stars indicate no assertion criteria were provided.

Question 2

Can I use this to annotate my own VCF files?

Accepted Answer

Yes, the skill provides specific workflows using tools like bcftools to download ClinVar VCFs and merge clinical significance data into your local variant sets.

Question 3

Does this skill require an API key for NCBI?

Accepted Answer

While not strictly required, the skill recommends using an NCBI API key to increase request limits from 3 to 10 requests per second for more efficient data retrieval.

Question 4

How do I search for pathogenic variants in a specific gene?

Accepted Answer

Use the skill to query the E-utilities API or web interface using patterns like 'GENENAME[gene] AND pathogenic[CLNSIG]' to isolate high-risk variants.

Question 5

How does the skill handle conflicting variant interpretations?

Accepted Answer

It provides a resolution strategy that prioritizes entries with higher star ratings (expert panels) and evaluates submission dates to ensure the most current evidence is used.

ClinVar Database Navigator

关于

主要功能

使用场景

ClinVar Database Navigator

关于

主要功能

使用场景