Submissions for variant NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)

gnomAD frequency: 0.00004  dbSNP: rs1217782958

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000727852	SCV000855315	uncertain significance	not provided	2018-07-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001393936	SCV001595613	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-11-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002325444	SCV002607254	likely benign	Cardiovascular phenotype	2019-07-04	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	RCV000727852	SCV003827276	uncertain significance	not provided	2019-04-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004540032	SCV004784060	likely benign	TTN-related disorder	2019-08-27	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).