Submissions for variant NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly)

gnomAD frequency: 0.00133  dbSNP: rs202059880

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155303	SCV000204989	likely benign	not specified	2015-07-21	criteria provided, single submitter	clinical testing	p.Glu1380Gly in exon 9 of TRIOBP: This variant is not expected to have clinical significance because it has been identified in 0.4% (36/8730) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs202059880).
Eurofins Ntd Llc (ga)	RCV000155303	SCV000344103	likely benign	not specified	2016-07-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001564488	SCV001787663	likely benign	not provided	2021-02-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001564488	SCV002409224	benign	not provided	2022-12-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001564488	SCV005206433	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003945236	SCV004765168	likely benign	TRIOBP-related disorder	2020-10-05	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).