ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17499T>C (p.Asp5833=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003436326 SCV004148126 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003778416 SCV004568208 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-18 criteria provided, single submitter clinical testing

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