ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2193_2197delinsA (p.Leu732fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287608 SCV002577703 likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2022-10-04 criteria provided, single submitter clinical testing PVS1_strong;PM6;PM2_supporting;PP5

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