NeuroGenetics
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CNV Interpretation
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Question 1
Which of the following CNVs would be MOST strongly supported as pathogenic based on ACMG/ClinGen framework evidence?
A
A 50 kb duplication within a known benign population CNV at 1.2% frequency in gnomAD-SV
B
A de novo 500 kb deletion encompassing a ClinGen HI score-3 gene with a matching phenotype
C
A 1 Mb duplication inherited from a clinically unaffected parent with no matching OMIM phenotype
D
A 200 kb deletion in a region with no OMIM genes and 3% population frequency
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