ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2649C>T (p.Phe883=) (rs775588479)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000272754 SCV000333103 uncertain significance not provided 2015-07-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825844 SCV000967327 likely benign not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Phe883Phe variant in TTN is classified as likely benign because it does no t alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 4/245924 of chromosomes by gnomAD (http://gnomad.broad institute.org). ACMG/AMP Criteria applied: BP4, BP7.
Invitae RCV001503592 SCV001708448 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-03-06 criteria provided, single submitter clinical testing

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