ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.151C>T (p.Leu51=)

dbSNP: rs397517489
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039920 SCV000063611 likely benign not specified 2011-11-30 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction.
Labcorp Genetics (formerly Invitae), Labcorp RCV001403457 SCV001605328 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-02-11 criteria provided, single submitter clinical testing

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