Submissions for variant NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr)

gnomAD frequency: 0.00211  dbSNP: rs72647897

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172719	SCV000051497	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041010	SCV000064701	likely benign	not specified	2015-08-06	criteria provided, single submitter	clinical testing	p.Ile3950Thr in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (155/65108) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs72647897).
GeneDx	RCV000172719	SCV000238101	likely benign	not provided	2021-03-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24503780, 25214167)
Eurofins Ntd Llc (ga)	RCV000041010	SCV000702534	likely benign	not specified	2016-10-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000172719	SCV001153140	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	TTN: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000172719	SCV001470933	likely benign	not provided	2023-03-02	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000172719	SCV001740736	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000172719	SCV001798382	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041010	SCV001918750	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000172719	SCV001927381	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041010	SCV001958906	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172719	SCV001974649	likely benign	not provided		no assertion criteria provided	clinical testing