ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39290C>G (p.Pro13097Arg)

dbSNP: rs924318627
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001700566 SCV002770582 uncertain significance not provided 2021-10-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001700566 SCV004237425 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing
GeneDx RCV001700566 SCV005437476 uncertain significance not provided 2024-06-11 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
Clinical Genetics, Academic Medical Center RCV001700566 SCV001917239 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700566 SCV001966022 uncertain significance not provided no assertion criteria provided clinical testing

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