Submissions for variant NM_001267550.2(TTN):c.79334G>A (p.Arg26445His)

gnomAD frequency: 0.00009  dbSNP: rs764254441

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725718	SCV000701096	uncertain significance	not provided	2018-08-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000596420	SCV000718607	likely benign	not specified	2018-03-06	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.
Athena Diagnostics	RCV000725718	SCV001146501	uncertain significance	not provided	2018-09-14	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725718	SCV003827414	uncertain significance	not provided	2023-05-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000725718	SCV001931228	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725718	SCV001967385	uncertain significance	not provided		no assertion criteria provided	clinical testing