Submissions for variant NM_001267550.2(TTN):c.60342C>T (p.Thr20114=)

gnomAD frequency: 0.00001  dbSNP: rs529529087

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176602	SCV000228281	uncertain significance	not provided	2016-12-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088829	SCV001053289	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453627	SCV002611586	likely benign	Cardiovascular phenotype	2021-02-23	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.
CeGaT Center for Human Genetics Tuebingen	RCV000176602	SCV004152354	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV001699054	SCV001924824	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000176602	SCV001954896	likely benign	not provided		no assertion criteria provided	clinical testing