ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2129dup (p.Ser711fs)

dbSNP: rs1980913274
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - Simons Searchlight RCV001265361 SCV001443481 likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2016-10-24 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-10-24 and interpreted as Likely Pathogenic. Variant was initially reported on 2015-08-20 by GTR ID of laboratory name Department of Clinical Genetics Our Lady's Children's Hospital Crumlin, Ireland. The reporting laboratory might also submit to ClinVar.

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