ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.14055A>G (p.Arg4685=)

gnomAD frequency: 0.00001  dbSNP: rs1466986172
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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) RCV000593044 SCV000707554 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701096 SCV001920401 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000593044 SCV001962979 likely benign not provided no assertion criteria provided clinical testing

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