ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87308A>G (p.Asn29103Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004791032 SCV005413009 uncertain significance not provided 2024-01-26 criteria provided, single submitter clinical testing BP4
GeneDx RCV004791032 SCV005626973 uncertain significance not provided 2024-07-11 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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