Submissions for variant NM_001267550.2(TTN):c.45994C>T (p.Leu15332=)

gnomAD frequency: 0.00005  dbSNP: rs765663809

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704814	SCV000730374	likely benign	not provided	2020-02-03	criteria provided, single submitter	clinical testing
Invitae	RCV001478501	SCV001682772	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002413766	SCV002721128	likely benign	Cardiovascular phenotype	2020-02-20	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.
Clinical Genetics, Academic Medical Center	RCV000603159	SCV001920118	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000603159	SCV001974325	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001704814	SCV002035683	likely benign	not provided		no assertion criteria provided	clinical testing