ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val) (rs771710562)

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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 RCV000727783 SCV000855179 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000608680 SCV000721637 likely benign not specified 2017-07-28 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 RCV000457085 SCV000542826 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-05 criteria provided, single submitter clinical testing

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