ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.201G>C (p.Gln67His)

dbSNP: rs1555812161
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622881 SCV000742179 likely pathogenic Inborn genetic diseases 2017-10-04 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265428 SCV001443554 likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2018-01-12 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-01-12 and interpreted as Likely Pathogenic. Variant was initially reported on 2017-03-15 by GTR ID of laboratory name 61756. The reporting laboratory might also submit to ClinVar.

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