ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11584C>T (p.Pro3862Ser)

dbSNP: rs375406698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713964 SCV000844616 uncertain significance not provided 2017-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000713964 SCV001995483 uncertain significance not provided 2019-12-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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

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