ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu)

gnomAD frequency: 0.00010  dbSNP: rs151253841
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Total submissions: 10
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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 RCV000172707 SCV000051328 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041061 SCV000064752 benign not specified 2014-11-20 criteria provided, single submitter clinical testing p.Pro5334Leu in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 3.0% (482/16240) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs151253841).
GeneDx RCV000172707 SCV000238150 benign not provided 2019-07-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000347993 SCV000424736 likely benign Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000403965 SCV000424737 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284884 SCV000424738 likely benign Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342254 SCV000424739 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397132 SCV000424740 likely benign Early-onset myopathy with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297525 SCV000424741 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000041061 SCV001984619 benign not specified 2020-03-19 criteria provided, single submitter clinical testing

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