ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55345T>C (p.Cys18449Arg)

dbSNP: rs2053507157
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328745 SCV001519931 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2019-12-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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