Submissions for variant NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)

gnomAD frequency: 0.00003  dbSNP: rs200325324

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156230	SCV000205946	uncertain significance	not specified	2013-12-11	criteria provided, single submitter	clinical testing	The Glu7721Lys variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide s trong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Glu7721Lys variant.
Invitae	RCV000555729	SCV000642895	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001544671	SCV001763845	likely benign	not provided	2020-10-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001544671	SCV004042109	uncertain significance	not provided	2023-08-01	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000157558	SCV000207304	uncertain significance	Primary dilated cardiomyopathy	2014-05-05	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001544671	SCV001978390	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001544671	SCV001980147	likely benign	not provided		no assertion criteria provided	clinical testing