ClinVar Miner

Submissions for variant NM_001282531.3(ADNP):c.2971A>G (p.Met991Val) (rs564373258)

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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 RCV000717457 SCV000848308 likely benign History of neurodevelopmental disorder 2017-03-02 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Invitae RCV000895846 SCV001039912 benign not provided 2017-12-29 criteria provided, single submitter clinical testing

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