Submissions for variant NM_001267550.2(TTN):c.39709+9G>C

gnomAD frequency: 0.00008  dbSNP: rs765647346

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000617013	SCV000726370	likely benign	not specified	2017-12-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087109	SCV000765042	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-23	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000729144	SCV000856786	uncertain significance	not provided	2017-09-06	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000729144	SCV001880254	uncertain significance	not provided	2020-10-27	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150306	SCV003838629	uncertain significance	Cardiomyopathy	2021-07-09	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000729144	SCV004225882	uncertain significance	not provided	2023-04-13	criteria provided, single submitter	clinical testing