ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+2007G>C (rs200816462)

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Total submissions: 3
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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 RCV000172720 SCV000051319 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155004 SCV000204686 uncertain significance not specified 2015-03-05 criteria provided, single submitter clinical testing The p.Lys3761Asn variant in TTN has been identified by our laboratory in 2 Ashke nazi Jewish adults with HCM. It has also been identified in 41/67272 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs200816462). Computational prediction tools and conservation analysi s are limited or unavailable for this variant. In summary, the clinical signific ance of the p.Lys3761Asn variant is uncertain.
GeneDx RCV000172720 SCV001784947 likely benign not provided 2019-07-09 criteria provided, single submitter clinical testing

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