ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43711A>G (p.Met14571Val)

gnomAD frequency: 0.00001  dbSNP: rs373801238
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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) RCV000727951 SCV000855465 uncertain significance not provided 2017-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000727951 SCV005379166 uncertain significance not provided 2023-11-07 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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