Submissions for variant NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)

gnomAD frequency: 0.00003  dbSNP: rs1455525236

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000733601	SCV000861688	uncertain significance	not provided	2018-06-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001402269	SCV001604114	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-10-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002406669	SCV002716986	likely benign	Cardiovascular phenotype	2019-12-12	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.
Clinical Genetics, Academic Medical Center	RCV001700301	SCV001923902	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000733601	SCV001963311	likely benign	not provided		no assertion criteria provided	clinical testing