ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) (rs367566671)

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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 RCV000370129 SCV000335584 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Invitae RCV000537749 SCV000643283 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000370129 SCV001146419 likely benign not provided 2020-06-25 criteria provided, single submitter clinical testing

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