ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.916T>C (p.Ser306Pro)

dbSNP: rs1554036458
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591978 SCV000703355 uncertain significance not provided 2016-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000591978 SCV001776830 uncertain significance not provided 2019-04-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31983221)

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