ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2137C>A (p.Arg713=)

dbSNP: rs727505277
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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) RCV000174803 SCV000226173 uncertain significance not provided 2014-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765086 SCV004593382 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-02-01 criteria provided, single submitter clinical testing

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