ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36281dup (p.His12095fs)

dbSNP: rs2154259448
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Total submissions: 1
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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 RCV001358694 SCV001554506 uncertain significance Early-onset myopathy with fatal cardiomyopathy criteria provided, single submitter clinical testing

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