ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43093G>A (p.Glu14365Lys)

gnomAD frequency: 0.00001  dbSNP: rs1302907540
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004592373 SCV005078699 uncertain significance not provided 2023-10-20 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; This variant is associated with the following publications: (PMID: 27625338, 27869827)

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