ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38311A>G (p.Lys12771Glu) (rs551811137)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080442 SCV000555022 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714022 SCV000844685 benign not provided 2018-07-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000714022 SCV001152940 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing

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