ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91884A>G (p.Arg30628=)

dbSNP: rs144922355
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727216 SCV000706700 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000598113 SCV000721930 likely benign not specified 2017-08-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005223031 SCV005865180 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-04-05 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000598113 SCV006065007 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing

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