ClinVar Miner

Submissions for variant NM_005262.3(GFER):c.259-25_259-24del (rs1597063303)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824905 SCV000965828 likely pathogenic Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 2014-01-01 criteria provided, single submitter clinical testing
OMIM RCV000824905 SCV001430677 pathogenic Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 2020-08-20 no assertion criteria provided literature only

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