ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.376C>T (p.Gln126Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) RCV002283349 SCV002571715 pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2020-09-02 criteria provided, single submitter clinical testing

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