ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84651C>T (p.Ser28217=)

gnomAD frequency: 0.00002  dbSNP: rs377667809
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424297 SCV000525981 likely benign not specified 2016-03-17 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 RCV002062742 SCV002372091 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-05-31 criteria provided, single submitter clinical testing

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