ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) (rs569860898)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126148 SCV000169641 benign not specified 2014-05-09 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.
Ambry Genetics RCV000243716 SCV000318245 likely benign Cardiovascular phenotype 2013-02-11 criteria provided, single submitter clinical testing
Invitae RCV001079401 SCV000554991 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000126148 SCV000706063 likely benign not specified 2017-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000459880 SCV001146349 benign not provided 2019-04-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000459880 SCV001153029 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing

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