ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.15227C>T (p.Pro5076Leu)

gnomAD frequency: 0.00006  dbSNP: rs201137248
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Total submissions: 2
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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 RCV000172429 SCV000051213 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172429 SCV000238138 likely benign not provided 2019-01-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)

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