ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89946C>T (p.Val29982=) (rs373311459)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214474 SCV000271102 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Val27414Val in exon 284 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (2/3120) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726709 SCV000702304 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000214474 SCV000730992 likely benign not specified 2018-01-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001087070 SCV001010074 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726709 SCV001152674 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000214474 SCV001372280 likely benign not specified 2020-06-29 criteria provided, single submitter clinical testing

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