Submissions for variant NM_001039141.3(TRIOBP):c.4333A>G (p.Arg1445Gly)

gnomAD frequency: 0.00225  dbSNP: rs199640717

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036824	SCV000060479	benign	not specified	2015-07-14	criteria provided, single submitter	clinical testing	p.Arg1445Gly in exon 9 of TRIOBP: This variant is not expected to have clinical significance because it is has been identified in 0.4% (122/27370) of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs199640717).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000963406	SCV001110557	benign	not provided	2024-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000963406	SCV001864649	benign	not provided	2020-03-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000963406	SCV005277302	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003924910	SCV004740273	likely benign	TRIOBP-related disorder	2021-08-19	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).