Submissions for variant NM_001267550.2(TTN):c.54811+10C>T

gnomAD frequency: 0.00005  dbSNP: rs796651993

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726045	SCV000701214	uncertain significance	not provided	2017-05-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000597465	SCV000724231	likely benign	not specified	2017-10-26	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	RCV003767351	SCV001008120	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-10-11	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000726045	SCV001742579	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000726045	SCV001923237	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000726045	SCV001928447	likely benign	not provided		no assertion criteria provided	clinical testing