Submissions for variant NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)

gnomAD frequency: 0.00079  dbSNP: rs187180708

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125920	SCV000169395	benign	not specified	2014-05-09	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.
Invitae	RCV001079390	SCV000555003	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000125920	SCV000616158	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725585	SCV000701032	uncertain significance	not provided	2016-12-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354317	SCV002648045	likely benign	Cardiovascular phenotype	2018-10-23	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149861	SCV003838529	benign	Cardiomyopathy	2021-09-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000125920	SCV004100185	likely benign	not specified	2023-09-26	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000125920	SCV001917321	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725585	SCV001964588	likely benign	not provided		no assertion criteria provided	clinical testing