Submissions for variant NM_133379.5(TTN):c.15981G>A (p.Gln5327=)

gnomAD frequency: 0.00017  dbSNP: rs186841908

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041060	SCV000064751	likely benign	not specified	2015-08-27	criteria provided, single submitter	clinical testing	p.Gln5327Gln in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.8% (90/11352) o f Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org/; dbSNP rs186841908).
GeneDx	RCV000041060	SCV000515088	benign	not specified	2015-04-20	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.
Eurofins Ntd Llc (ga)	RCV000041060	SCV000702870	benign	not specified	2017-01-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811301	SCV002049069	likely benign	not provided	2021-09-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001811301	SCV005260120	likely benign	not provided		criteria provided, single submitter	not provided