Submissions for variant NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)

gnomAD frequency: 0.00031  dbSNP: rs370105333

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000252704	SCV000318204	benign	Cardiovascular phenotype	2013-01-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000389278	SCV000339926	likely benign	not specified	2016-03-02	criteria provided, single submitter	clinical testing
Invitae	RCV000468607	SCV000555536	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001707605	SCV000726320	likely benign	not provided	2020-08-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840445	SCV002100738	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840446	SCV002100739	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840447	SCV002100740	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840444	SCV002100742	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000389278	SCV004813374	likely benign	not specified	2024-02-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000389278	SCV001978883	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001707605	SCV001980620	likely benign	not provided		no assertion criteria provided	clinical testing