Submissions for variant NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)

gnomAD frequency: 0.00238  dbSNP: rs34066624

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152133	SCV000200825	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Arg1344Gln in Exon 08 of TRIOBP: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (30/6466) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs34066624).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000664422	SCV000296983	likely benign	Autosomal recessive nonsyndromic hearing loss 28	2018-05-03	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000442379	SCV000511562	likely benign	not provided	2017-02-08	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000442379	SCV000717860	benign	not provided	2018-09-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000442379	SCV001028788	likely benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000442379	SCV001153689	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	TRIOBP: BP4, BS2
Athena Diagnostics	RCV000442379	SCV001475700	likely benign	not provided	2020-07-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000664422	SCV002049685	likely benign	Autosomal recessive nonsyndromic hearing loss 28	2021-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000442379	SCV005206430	likely benign	not provided		criteria provided, single submitter	not provided
GenomeConnect, ClinGen	RCV000509516	SCV000606927	not provided	Deafness		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences	RCV003952729	SCV004780493	benign	TRIOBP-related disorder	2020-10-02	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).