Submissions for variant NM_001267550.2(TTN):c.73149G>A (p.Ser24383=)

gnomAD frequency: 0.00001  dbSNP: rs564938876

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000460875	SCV000555240	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-09-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001420957	SCV001623435	likely benign	not specified	2021-05-16	criteria provided, single submitter	clinical testing
GeneDx	RCV002225621	SCV002504571	likely benign	not provided	2020-01-06	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV002341068	SCV002637552	likely benign	Cardiovascular phenotype	2019-11-08	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.
Fulgent Genetics, Fulgent Genetics	RCV002496796	SCV002806087	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-10-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002225621	SCV004150291	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7