ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45327C>T (p.Thr15109=)

gnomAD frequency: 0.00001  dbSNP: rs376143828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591488 SCV000702807 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065147 SCV002394352 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-02 criteria provided, single submitter clinical testing

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