ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser) (rs886039082)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247192 SCV000319969 uncertain significance Cardiovascular phenotype 2019-10-21 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000526468 SCV000643574 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000828869 SCV000970571 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing Not observed at a significant frequency 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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