Submissions for variant NM_001267550.2(TTN):c.52863G>A (p.Glu17621=)

gnomAD frequency: 0.00004  dbSNP: rs368606067

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000529038	SCV000643328	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-08-12	criteria provided, single submitter	clinical testing
GeneDx	RCV001712509	SCV001940459	likely benign	not provided	2018-10-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004024034	SCV005020408	likely benign	Cardiovascular phenotype	2023-11-23	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	RCV001712509	SCV005432997	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	TTN: BP4, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV005239178	SCV005887162	likely benign	not specified	2025-01-16	criteria provided, single submitter	clinical testing