ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.152C>T (p.Ala51Val) (rs727504039)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153563 SCV000203098 uncertain significance not provided 2016-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719244 SCV000850110 uncertain significance History of neurodevelopmental disorder 2016-07-21 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000764867 SCV000896023 uncertain significance Nance-Horan syndrome; Cataract 40 2018-10-31 criteria provided, single submitter clinical testing

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