Submissions for variant NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)

gnomAD frequency: 0.00007  dbSNP: rs201229221

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172378	SCV000051295	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV000457855	SCV000543092	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-10-25	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000172378	SCV000701145	uncertain significance	not provided	2017-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000596358	SCV000714913	likely benign	not specified	2018-03-02	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000596358	SCV003801240	uncertain significance	not specified	2023-01-14	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000172378	SCV003824285	uncertain significance	not provided	2019-08-28	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000172378	SCV005413125	uncertain significance	not provided	2023-07-07	criteria provided, single submitter	clinical testing