ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15965C>T (p.Ser5322Leu)

gnomAD frequency: 0.00002  dbSNP: rs758182029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756824 SCV001995047 uncertain significance not provided 2019-10-29 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
Revvity Omics, Revvity RCV001756824 SCV003820149 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing

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