ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.15313C>A (p.Arg5105=)

dbSNP: rs376396183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596156 SCV000702144 uncertain significance not provided 2016-10-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000596156 SCV001742244 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724070 SCV001952753 benign not specified no assertion criteria provided clinical testing

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