ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15896G>C (p.Arg5299Thr)

dbSNP: rs563456537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000942522 SCV001088450 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141901 SCV003819801 uncertain significance not provided 2019-05-30 criteria provided, single submitter clinical testing

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