ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85219A>G (p.Ile28407Val)

dbSNP: rs2154159153
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767716 SCV001999487 uncertain significance not provided 2019-11-20 criteria provided, single submitter clinical testing 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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