Submissions for variant NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys)

gnomAD frequency: 0.00003  dbSNP: rs397517502

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039976	SCV000063667	uncertain significance	not specified	2012-04-05	criteria provided, single submitter	clinical testing	The Glu6404Lys variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stron g support for or against an impact to the protein. Additional information is nee ded to fully assess the clinical significance of the Glu6404Lys variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234114	SCV000286506	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2016-11-11	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001528454	SCV003824282	uncertain significance	not provided	2019-03-29	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528454	SCV001740237	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528454	SCV001952459	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528454	SCV001965203	likely benign	not provided		no assertion criteria provided	clinical testing