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

gnomAD frequency: 0.00137  dbSNP: rs375013523

Total submissions: 6

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).
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV000890423	SCV005206444	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003927471	SCV004754685	likely benign	TRIOBP-related disorder	2024-02-02	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).