Submissions for variant NM_133379.5(TTN):c.16432G>A (p.Val5478Met)

dbSNP: rs72648915

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000041071	SCV000051774	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041071	SCV000064762	benign	not specified	2012-03-16	criteria provided, single submitter	clinical testing	Val5478Met in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 12.3% (460/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs72648915).
GeneDx	RCV000041071	SCV000169568	benign	not specified	2014-01-21	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.
Clinical Genetics, Academic Medical Center	RCV000041071	SCV001925390	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041071	SCV001956751	benign	not specified		no assertion criteria provided	clinical testing