Submissions for variant NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)

gnomAD frequency: 0.00005  dbSNP: rs370903846

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725166	SCV000334595	uncertain significance	not provided	2015-08-24	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000311992	SCV000710961	likely benign	not specified	2016-08-03	criteria provided, single submitter	clinical testing	p.Ser8413Ser in exon 97 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. it has been identified in 1/6576 of European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs370903846).
Invitae	RCV001088735	SCV001009991	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939968	SCV004766493	likely benign	TTN-related condition	2019-11-26	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).