Bioinformatics (Clinically Relevant Databases) L9: Explain ClinVar Review Statuses?

Question

Explain ClinVar Review Statuses?

Shay 1vcc · Accepted Answer

Expert panels – both medical and research experts with published criteria and process for evaluating variant pathogenicity
• CFTR2, InSiGHT
Professional society – groups that provide practice guidelines
• American College of Medical Genetics (ACMG)

Bioinformatics (Clinically Relevant Databases) L9

Explain ClinVar Review Statuses?

Expert panels – both medical and research experts with published criteria and process for evaluating variant pathogenicity • CFTR2, InSiGHT Professional society – groups that provide practice guidelines • American College of Medical Genetics (ACMG)

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