VIKNOX

CNV Classifier

ACMG/ClinGen constitutional CNV interpretation · GRCh38

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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.