Submissions for variant NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=)

gnomAD frequency: 0.00143  dbSNP: rs112874177

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000730233	SCV000857958	likely benign	not specified	2018-09-11	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000730233	SCV000966538	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Arg1576Arg in Exon 09 of TRIOBP: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.5% (15/3154) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs112874177).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000901476	SCV001045848	benign	not provided	2023-11-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000901476	SCV001767755	likely benign	not provided	2020-10-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000901476	SCV005206434	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003928226	SCV004738834	likely benign	TRIOBP-related disorder	2019-05-31	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).