Submissions for variant NM_003573.2(LTBP4):c.4456+8C>T

gnomAD frequency: 0.01836  dbSNP: rs80192963

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220972	SCV000269237	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	4567+8C>T in intron 31 of LTBP4: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 4.5% (189/4172) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs80192963).
GeneDx	RCV000220972	SCV000534137	benign	not specified	2016-11-21	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002057074	SCV002408302	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002057074	SCV005307299	benign	not provided		criteria provided, single submitter	not provided