ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88591C>T (p.Leu29531Phe)

gnomAD frequency: 0.00004  dbSNP: rs371483198
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184936 SCV000237702 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000184936 SCV003824259 uncertain significance not provided 2020-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000184936 SCV001922314 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000184936 SCV001973948 uncertain significance not provided no assertion criteria provided clinical testing

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