ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) (rs200201741)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000346238 SCV000341199 likely benign not specified 2016-04-21 criteria provided, single submitter clinical testing
Invitae RCV000199507 SCV000252839 benign Joubert syndrome 2015-09-02 criteria provided, single submitter clinical testing

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