ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34538-5T>A

gnomAD frequency: 0.00003  dbSNP: rs771217707
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993426 SCV001146378 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000993426 SCV002498819 uncertain significance not provided 2024-09-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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