ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12307T>C (p.Leu4103=)

dbSNP: rs587780988
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126087 SCV000169577 benign not specified 2014-03-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000727051 SCV000705182 uncertain significance not provided 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV001426537 SCV001629194 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-15 criteria provided, single submitter clinical testing

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