ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile)

gnomAD frequency: 0.00004  dbSNP: rs377667066
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172244 SCV000054925 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172244 SCV000236791 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31983221)
Revvity Omics, Revvity RCV000172244 SCV004237035 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000172244 SCV001807870 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000172244 SCV001924638 uncertain significance not provided no assertion criteria provided clinical testing

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