ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)

gnomAD frequency: 0.00240  dbSNP: rs149748934
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Total submissions: 12
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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 RCV000172712 SCV000051499 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041034 SCV000064725 likely benign not specified 2015-09-10 criteria provided, single submitter clinical testing p.Pro4650Ser in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (209/66040) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs149748934).
GeneDx RCV000172712 SCV000238125 benign not provided 2019-01-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000041034 SCV000345839 likely benign not specified 2016-09-06 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578000 SCV000679947 likely benign Tibial muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000172712 SCV000693030 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TTN: BP4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000172712 SCV001472836 likely benign not provided 2024-04-17 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000172712 SCV001741093 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172712 SCV001800632 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000041034 SCV001920812 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000172712 SCV001954298 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000172712 SCV001965019 likely benign not provided no assertion criteria provided clinical testing

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