Submissions for variant NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln)

gnomAD frequency: 0.00004  dbSNP: rs202022304

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001508476	SCV000238273	likely benign	not provided	2020-01-15	criteria provided, single submitter	clinical testing
Invitae	RCV000543382	SCV000642774	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-05-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764349	SCV000895368	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
Mayo Clinic Laboratories, Mayo Clinic	RCV001508476	SCV001714655	uncertain significance	not provided	2020-09-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001508476	SCV001978801	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001508476	SCV001979349	uncertain significance	not provided		no assertion criteria provided	clinical testing