Submissions for variant NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)

gnomAD frequency: 0.00064  dbSNP: rs377180286

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724238	SCV000228184	uncertain significance	not provided	2014-10-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000724238	SCV000515150	likely benign	not provided	2020-12-15	criteria provided, single submitter	clinical testing
Invitae	RCV001085373	SCV000555230	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618923	SCV000737341	likely benign	Cardiovascular phenotype	2017-12-12	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769995	SCV000901421	benign	Cardiomyopathy	2020-06-25	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000724238	SCV003824800	uncertain significance	not provided	2019-08-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539639	SCV004778982	likely benign	TTN-related disorder	2023-02-16	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000724238	SCV001744447	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000724238	SCV001918069	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724238	SCV001966266	likely benign	not provided		no assertion criteria provided	clinical testing