Submissions for variant NM_001267550.2(TTN):c.26928G>A (p.Leu8976=)

gnomAD frequency: 0.00015  dbSNP: rs370973715

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154966	SCV000204648	likely benign	not specified	2013-08-07	criteria provided, single submitter	clinical testing	Leu7732Leu in exon 90 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2/3920 African Ameri can chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS). Leu7732Leu in exon 90 of TTN (allele frequency = 2/3920) **
Eurofins Ntd Llc (ga)	RCV000725629	SCV000338297	uncertain significance	not provided	2016-02-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000154966	SCV000720416	likely benign	not specified	2017-06-13	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001470069	SCV001674159	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154966	SCV005886833	likely benign	not specified	2025-02-03	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000154966	SCV006065442	likely benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing