ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79780C>A (p.Leu26594Ile)

gnomAD frequency: 0.00006  dbSNP: rs759737599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000831507 SCV000973258 likely benign not provided 2018-06-18 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.
Revvity Omics, Revvity RCV000831507 SCV003822897 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing

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