ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7459C>A (p.Pro2487Thr)

gnomAD frequency: 0.00004  dbSNP: rs759448340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663410 SCV001879695 uncertain significance not provided 2021-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001663410 SCV002319089 uncertain significance not provided 2022-03-07 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001663410 SCV003821078 uncertain significance not provided 2019-02-20 criteria provided, single submitter clinical testing

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