ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106698del (p.Ala35567fs)

dbSNP: rs2468309929
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital RCV003228877 SCV003925596 likely pathogenic Early-onset myopathy with fatal cardiomyopathy criteria provided, single submitter clinical testing

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