ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+1079_11311+1080del

dbSNP: rs58651353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040994 SCV000064685 likely benign not specified 2011-09-27 criteria provided, single submitter clinical testing 10361-6_10361-5delTT in intron 45 of TTN: This variant is not expected to have c linical significance because it is located outside the conserved +/- 1, 2 region of the splicing consensus sequence and as part of a polyT stretch.
GeneDx RCV001642568 SCV001855610 benign not provided 2019-08-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28798025)

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