ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45895+10T>A

gnomAD frequency: 0.00001  dbSNP: rs373140286
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Total submissions: 1
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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 RCV000216342 SCV000271025 likely benign not specified 2015-02-03 criteria provided, single submitter clinical testing c.38191+10T>A in intron 196 of TTN: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence.

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