Submissions for variant NM_001267550.2(TTN):c.66549C>T (p.Asp22183=)

gnomAD frequency: 0.00016  dbSNP: rs374667295

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000533426	SCV000643546	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-12-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001683571	SCV001896707	likely benign	not provided	2019-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377096	SCV002625136	likely benign	Cardiovascular phenotype	2019-07-20	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.
Revvity Omics, Revvity	RCV001683571	SCV003825517	likely benign	not provided	2023-12-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001683571	SCV004011259	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003317268	SCV004020359	likely benign	not specified	2023-06-25	criteria provided, single submitter	clinical testing