ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88248T>C (p.Val29416=)

dbSNP: rs794727458
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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) RCV000176838 SCV000228592 uncertain significance not provided 2014-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001467250 SCV001671272 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-03-23 criteria provided, single submitter clinical testing

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