Submissions for variant NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe)

gnomAD frequency: 0.00010  dbSNP: rs370109572

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000253962	SCV000317958	uncertain significance	Cardiovascular phenotype	2013-01-13	criteria provided, single submitter	clinical testing	There is insufficient or conflicting evidence for classification of this alteration.
Eurofins Ntd Llc (ga)	RCV000725817	SCV000339586	uncertain significance	not provided	2016-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000725817	SCV000515098	likely benign	not provided	2021-03-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23463027, 30764827, 27493940)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798749	SCV002042385	uncertain significance	Cardiomyopathy	2022-08-04	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000725817	SCV001740895	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000725817	SCV001798540	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000725817	SCV001952034	uncertain significance	not provided		no assertion criteria provided	clinical testing