Submissions for variant NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)

gnomAD frequency: 0.00003  dbSNP: rs372309164

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000596464	SCV000708079	uncertain significance	not provided	2017-04-28	criteria provided, single submitter	clinical testing
Invitae	RCV000643217	SCV000764904	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-12-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764317	SCV000895336	uncertain significance	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	2018-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000596464	SCV000982217	likely benign	not provided	2021-03-08	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000596464	SCV003824847	uncertain significance	not provided	2022-01-27	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150295	SCV003837976	benign	Cardiomyopathy	2022-04-19	criteria provided, single submitter	clinical testing