Submissions for variant NM_001267550.2(TTN):c.81168T>C (p.Ser27056=)

gnomAD frequency: 0.00001  dbSNP: rs767101518

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000827372	SCV000969015	likely benign	not provided	2019-08-12	criteria provided, single submitter	clinical testing
Invitae	RCV001416065	SCV001618235	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2022-08-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345918	SCV002647018	likely benign	Cardiovascular phenotype	2019-09-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002507451	SCV002807985	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-10-28	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150358	SCV003838542	likely benign	Cardiomyopathy	2021-09-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000827372	SCV004703336	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004540127	SCV004792989	likely benign	TTN-related disorder	2019-03-05	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).