CNV Classifier

ACMG/ClinGen constitutional CNV interpretation · GRCh38

Try an example

No CNV of your own? Load a worked case to see how the tool scores it.

NRXN1 deletion — 2p16.3 A single haploinsufficient neurodevelopmental gene. Pathogenic on coordinates alone; entered on GRCh37/hg19 to show the automatic liftover. 16p11.2 recurrent deletion A well-established genomic-disorder region. Pathogenic with no clinical information supplied. CAMTA1 deletion + de novo Likely pathogenic on coordinates alone; a confirmed de novo origin plus a matching phenotype escalate it to Pathogenic.

Research/demo use only — not for diagnostic use. © 2026 Viknox Intelligence / 隐序智能科技有限公司