ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1767C>A (p.Tyr589Ter) (rs188150039)

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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 RCV000595828 SCV000709388 pathogenic not provided 2017-06-16 criteria provided, single submitter clinical testing
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000754754 SCV000882646 likely pathogenic Limb-girdle muscular dystrophy, type 2L 2018-10-08 criteria provided, single submitter clinical testing

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