Submissions for variant NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)

gnomAD frequency: 0.00258  dbSNP: rs143157673

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155302	SCV000204988	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Thr195Ile in Exon 06 of TRIOBP: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (26/6650) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs143157673).
Eurofins Ntd Llc (ga)	RCV000155302	SCV000334446	likely benign	not specified	2015-09-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000843701	SCV000985738	benign	not provided	2019-09-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000843701	SCV001111786	likely benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000843701	SCV001153687	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TRIOBP: BP4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001286605	SCV001473208	likely benign	Autosomal recessive nonsyndromic hearing loss 28	2022-03-07	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000843701	SCV001475701	likely benign	not provided	2019-09-30	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000843701	SCV002011217	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927509	SCV004739389	likely benign	TRIOBP-related disorder	2019-08-07	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).