Submissions for variant NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)

gnomAD frequency: 0.00004  dbSNP: rs727503545

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152182	SCV000200919	uncertain significance	not specified	2014-04-04	criteria provided, single submitter	clinical testing	The Arg28987His variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction too ls and conservation analyses do not provide strong support for or against an imp act to the protein. In summary, additional information is needed to fully assess the clinical significance of the Arg28987His variant.
Eurofins Ntd Llc (ga)	RCV000726542	SCV000345346	uncertain significance	not provided	2017-08-22	criteria provided, single submitter	clinical testing
Invitae	RCV000477611	SCV000542419	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2016-12-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000726542	SCV001790380	likely benign	not provided	2021-03-24	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000726542	SCV001879721	uncertain significance	not provided	2020-12-14	criteria provided, single submitter	clinical testing