ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.15608T>C (p.Ile5203Thr)

gnomAD frequency: 0.00011  dbSNP: rs200376564
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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 RCV000172425 SCV000051210 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152435 SCV000201501 uncertain significance not specified 2014-08-13 criteria provided, single submitter clinical testing The Ile5203Thr variant in TTN has not been previously reported in individuals wi th cardiomyopathy. This variant has been identified in 1/1323 chromosomes by the ClinSeq project (dbSNP rs200376564). Computational prediction tools and conserv ation analysis are limited or unavailable. In summary, the clinical significance of the Ile5203Thr variant is uncertain.

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