Submissions for variant NM_001267550.2(TTN):c.85308C>T (p.Ala28436=)

gnomAD frequency: 0.00004  dbSNP: rs765611726

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000864239	SCV001005015	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-11-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002352516	SCV002647419	likely benign	Cardiovascular phenotype	2021-01-07	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	RCV001729720	SCV005075503	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729720	SCV001978032	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001729721	SCV001979200	benign	not specified		no assertion criteria provided	clinical testing