ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2666del (p.Ser889fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797538 SCV005418434 likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PM6_Supporting

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