Submissions for variant NM_001267550.2(TTN):c.14424G>C (p.Val4808=)

gnomAD frequency: 0.00019  dbSNP: rs374479775

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000225699	SCV000236732	benign	not specified	2014-09-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000725707	SCV000338759	uncertain significance	not provided	2016-01-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084587	SCV000642694	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000725707	SCV000884772	benign	not provided	2018-02-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170874	SCV001333496	benign	Cardiomyopathy	2017-11-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725707	SCV001501775	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TTN: BP4