Submissions for variant NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met)

dbSNP: rs55933739

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000725252	SCV000237626	likely benign	not provided	2019-09-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31983221)
Ambry Genetics	RCV000253906	SCV000318081	likely benign	Cardiovascular phenotype	2021-10-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Eurofins Ntd Llc (ga)	RCV000725252	SCV000335328	uncertain significance	not provided	2015-09-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725252	SCV003819699	uncertain significance	not provided	2020-02-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150074	SCV003838537	likely benign	Cardiomyopathy	2021-07-20	criteria provided, single submitter	clinical testing