Submissions for variant NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=)

gnomAD frequency: 0.00137  dbSNP: rs375013523

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152151	SCV000200851	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Leu2247Leu in Exon 21 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 0.6% (19/3346) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS).
Invitae	RCV000890423	SCV001034169	benign	not provided	2024-01-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001688	SCV001159254	benign	Autosomal recessive nonsyndromic hearing loss 28	2018-09-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000890423	SCV001758637	likely benign	not provided	2021-05-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927471	SCV004754685	likely benign	TRIOBP-related condition	2024-02-02	criteria provided, single submitter	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).