Submissions for variant NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)

gnomAD frequency: 0.00009  dbSNP: rs375474669

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000710276	SCV000203714	uncertain significance	not provided	2017-08-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464514	SCV000542678	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-09-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710276	SCV000616075	uncertain significance	not provided	2017-07-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621883	SCV000737323	likely benign	Cardiovascular phenotype	2019-12-11	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.
GeneDx	RCV000710276	SCV000980541	likely benign	not provided	2020-11-17	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798493	SCV002042470	uncertain significance	Cardiomyopathy	2019-07-08	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000710276	SCV003827346	uncertain significance	not provided	2021-02-18	criteria provided, single submitter	clinical testing