ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83659C>T (p.Pro27887Ser)

dbSNP: rs794727455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176823 SCV000228565 uncertain significance not provided 2015-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000176823 SCV005378230 uncertain significance not provided 2023-11-03 criteria provided, single submitter clinical testing Not observed at 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

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