ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100766-9C>T (rs77483833)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040900 SCV000064591 likely benign not specified 2011-11-22 criteria provided, single submitter clinical testing 93062-9C>T in intron 306 of TTN: This variant is not expected to have clinical s ignificance because it is located outside the conserved +/- 1, 2 region of the s plicing consensus sequence and as part of a poly T stretch.
Invitae RCV000539953 SCV000642498 benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Invitae RCV001517382 SCV001725866 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-07 criteria provided, single submitter clinical testing

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