ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44743A>G (p.Thr14915Ala)

dbSNP: rs878854310
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230954 SCV000286668 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-01-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137839 SCV003826608 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003137839 SCV004152422 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing TTN: PM2, BP5

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